Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000269305.4 | c.818G>A | p.Arg273His | missense_variant | 8/11 | - |
ENST00000359597.4 | c.818G>A | p.Arg273His | missense_variant | 7/9 | - |
ENST00000413465.2 | c.782+379G>A | - | intron_variant | - | 6/6 |
ENST00000420246.2 | c.818G>A | p.Arg273His | missense_variant | 8/12 | - |
ENST00000445888.2 | c.818G>A | p.Arg273His | missense_variant | 8/11 | - |
ENST00000455263.2 | c.818G>A | p.Arg273His | missense_variant | 8/12 | - |
ENST00000504290.1 | n.700G>A | - | non_coding_transcript_exon_variant | 4/8 | - |
ENST00000504937.1 | n.700G>A | - | non_coding_transcript_exon_variant | 4/7 | - |
ENST00000509690.1 | c.422G>A | p.Arg141His | missense_variant | 5/6 | - |
ENST00000510385.1 | n.700G>A | - | non_coding_transcript_exon_variant | 4/8 | - |
NM_000546.5 | c.818G>A | p.Arg273His | missense_variant | 8/11 | - |
NM_001126112.2 | c.818G>A | p.Arg273His | missense_variant | 8/11 | - |
NM_001126113.2 | c.818G>A | p.Arg273His | missense_variant | 8/12 | - |
NM_001126114.2 | c.818G>A | p.Arg273His | missense_variant | 8/12 | - |
NM_001126115.1 | c.422G>A | p.Arg141His | missense_variant | 4/7 | - |
NM_001126116.1 | c.422G>A | p.Arg141His | missense_variant | 4/8 | - |
NM_001126117.1 | c.422G>A | p.Arg141His | missense_variant | 4/8 | - |
NM_001126118.1 | c.701G>A | p.Arg234His | missense_variant | 7/10 | - |
NM_001276695.2 | c.701G>A | p.Arg234His | missense_variant | 8/12 | - |
NM_001276696.2 | c.701G>A | p.Arg234His | missense_variant | 8/12 | - |
NM_001276697.2 | c.341G>A | p.Arg114His | missense_variant | 4/7 | - |
NM_001276698.2 | c.341G>A | p.Arg114His | missense_variant | 4/8 | - |
NM_001276699.2 | c.341G>A | p.Arg114His | missense_variant | 4/8 | - |
NM_001276760.2 | c.701G>A | p.Arg234His | missense_variant | 8/11 | - |
NM_001276761.2 | c.701G>A | p.Arg234His | missense_variant | 8/11 | - |