Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000207636.5 | c.472G>A | p.Val158Met | missense_variant,NMD_transcript_variant | 4/6 | - |
ENST00000361682.6 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
ENST00000403184.1 | c.472G>A | p.Val158Met | missense_variant | 4/5 | - |
ENST00000403710.1 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
ENST00000406520.3 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
ENST00000407537.1 | c.322G>A | p.Val108Met | missense_variant | 5/7 | - |
ENST00000412786.1 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
ENST00000428707.1 | c.52G>A | p.Val18Met | missense_variant | 1/3 | - |
ENST00000449653.1 | c.322G>A | p.Val108Met | missense_variant | 2/4 | - |
ENST00000493893.1 | n.210G>A | - | non_coding_transcript_exon_variant | 2/3 | - |
NM_000754.4 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
NM_001135161.2 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
NM_001135162.2 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
NM_001362828.2 | c.472G>A | p.Val158Met | missense_variant | 4/6 | - |
NM_007310.3 | c.322G>A | p.Val108Met | missense_variant | 2/4 | - |