Linked Data
ClinVar Variation Id:
4801
dbSNP Id:
rs119482083
ExAC:
9:94830377 A / T
gnomAD v2:
9-94830377-A-T
gnomAD v3:
9-92068095-A-T
gnomAD v4:
9-92068095-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92068095A>T , CM000671.2:g.92068095A>T | GRCh38 |
| NC_000009.11:g.94830377A>T , CM000671.1:g.94830377A>T | GRCh37 |
| NC_000009.10:g.93870198A>T | NCBI36 |
| NG_007950.1:g.52314T>A , LRG_272:g.52314T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482632.6:n.841T>A | ||
| ENST00000686600.1:c.431T>A | ENSP00000509268.1:p.Val144Asp | |
| ENST00000686799.1:n.528T>A | ||
| ENST00000687427.1:c.431T>A | ENSP00000509426.1:p.Val144Asp | |
| ENST00000687817.1:c.*234T>A | ENSP00000508926.1:n.*234T>A | |
| ENST00000687972.1:c.491T>A | ENSP00000509208.1:p.Val164Asp | |
| ENST00000689261.1:n.338T>A | ||
| ENST00000689401.1:c.*681T>A | ENSP00000510251.1:n.*681T>A | |
| ENST00000689423.1:c.*681T>A | ENSP00000508519.1:n.*681T>A | |
| ENST00000690095.1:n.759T>A | ||
| ENST00000690139.1:c.*132T>A | ENSP00000510483.1:n.*132T>A | |
| ENST00000692458.1:n.454T>A | ||
| ENST00000693147.1:c.*447T>A | ENSP00000510358.1:n.*447T>A | |
| ENST00000262554.7:c.431T>A MANE Select | ENSP00000262554.2:p.Val144Asp | |
| ENST00000642671.1:c.476T>A | ENSP00000495764.1:n.476T>A | |
| ENST00000643599.1:c.303T>A | ENSP00000494770.1:n.303T>A | |
| ENST00000644140.1:c.*172T>A | ENSP00000493933.1:n.*172T>A | |
| ENST00000646481.1:c.303T>A | ENSP00000496627.1:n.303T>A | |
| ENST00000646534.1:c.*234T>A | ENSP00000495388.1:n.*234T>A | |
| ENST00000262554.6:c.431T>A | ENSP00000262554.2:p.Val144Asp | |
| ENST00000482632.5:n.578T>A | ||
| NM_001281303.1:c.431T>A | NP_001268232.1:p.Val144Asp | |
| NM_006415.3:c.431T>A | NP_006406.1:p.Val144Asp | |
| XM_011518138.1:c.431T>A | XP_011516440.1:p.Val144Asp | |
| XM_011518139.1:c.-35T>A | XP_011516441.1:n.-35T>A | |
| XM_011518138.2:c.431T>A | XP_011516440.1:p.Val144Asp | |
| XM_011518139.3:c.-35T>A | XP_011516441.1:n.-35T>A | |
| XM_017014200.2:c.65T>A | XP_016869689.1:p.Val22Asp | |
| XM_017014201.2:c.65T>A | XP_016869690.1:p.Val22Asp | |
| XM_024447378.1:c.-35T>A | XP_024303146.1:n.-35T>A | |
| XM_024447379.1:c.-35T>A | XP_024303147.1:n.-35T>A | |
| XR_002956744.1:n.581T>A | ||
| NM_006415.4:c.431T>A MANE Select | NP_006406.1:p.Val144Asp | |
| NM_001281303.2:c.431T>A | NP_001268232.1:p.Val144Asp | |
| NM_001368272.1:c.65T>A | NP_001355201.1:p.Val22Asp | |
| NM_001368273.1:c.-35T>A | NP_001355202.1:n.-35T>A |