Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000269305.4 | c.524G>A | p.Arg175His | missense_variant | 5/11 | - |
ENST00000359597.4 | c.524G>A | p.Arg175His | missense_variant | 4/9 | - |
ENST00000413465.2 | c.524G>A | p.Arg175His | missense_variant | 4/7 | - |
ENST00000420246.2 | c.524G>A | p.Arg175His | missense_variant | 5/12 | - |
ENST00000445888.2 | c.524G>A | p.Arg175His | missense_variant | 5/11 | - |
ENST00000455263.2 | c.524G>A | p.Arg175His | missense_variant | 5/12 | - |
ENST00000504290.1 | n.406G>A | - | non_coding_transcript_exon_variant | 1/8 | - |
ENST00000504937.1 | n.406G>A | - | non_coding_transcript_exon_variant | 1/7 | - |
ENST00000505014.1 | n.780G>A | - | non_coding_transcript_exon_variant | 4/5 | - |
ENST00000509690.1 | c.128G>A | p.Arg43His | missense_variant | 2/6 | - |
ENST00000510385.1 | n.406G>A | - | non_coding_transcript_exon_variant | 1/8 | - |
ENST00000514944.1 | c.245G>A | p.Arg82His | missense_variant | 4/6 | - |
ENST00000574684.1 | n.32G>A | - | non_coding_transcript_exon_variant | 1/2 | - |
NM_000546.5 | c.524G>A | p.Arg175His | missense_variant | 5/11 | - |
NM_001126112.2 | c.524G>A | p.Arg175His | missense_variant | 5/11 | - |
NM_001126113.2 | c.524G>A | p.Arg175His | missense_variant | 5/12 | - |
NM_001126114.2 | c.524G>A | p.Arg175His | missense_variant | 5/12 | - |
NM_001126115.1 | c.128G>A | p.Arg43His | missense_variant | 1/7 | - |
NM_001126116.1 | c.128G>A | p.Arg43His | missense_variant | 1/8 | - |
NM_001126117.1 | c.128G>A | p.Arg43His | missense_variant | 1/8 | - |
NM_001126118.1 | c.407G>A | p.Arg136His | missense_variant | 4/10 | - |
NM_001276695.2 | c.407G>A | p.Arg136His | missense_variant | 5/12 | - |
NM_001276696.2 | c.407G>A | p.Arg136His | missense_variant | 5/12 | - |
NM_001276697.2 | c.47G>A | p.Arg16His | missense_variant | 1/7 | - |
NM_001276698.2 | c.47G>A | p.Arg16His | missense_variant | 1/8 | - |
NM_001276699.2 | c.47G>A | p.Arg16His | missense_variant | 1/8 | - |
NM_001276760.2 | c.407G>A | p.Arg136His | missense_variant | 5/11 | - |
NM_001276761.2 | c.407G>A | p.Arg136His | missense_variant | 5/11 | - |