Linked Data
ClinVar Variation Id:
218682
ClinVar RCV Id:
RCV000203194
dbSNP Id:
rs140685957
ExAC:
1:26507327 T / A
gnomAD v2:
1-26507327-T-A
gnomAD v3:
1-26180836-T-A
gnomAD v4:
1-26180836-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26180836T>A , CM000663.2:g.26180836T>A | GRCh38 |
| NC_000001.10:g.26507327T>A , CM000663.1:g.26507327T>A | GRCh37 |
| NC_000001.9:g.26379914T>A | NCBI36 |
| NG_047117.1:g.8347T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361530.11:c.332T>A MANE Select | ENSP00000354609.6:p.Val111Asp | |
| ENST00000361530.10:c.332T>A | ENSP00000354609.6:p.Val111Asp | |
| ENST00000374253.9:c.332T>A | ENSP00000363371.5:p.Val111Asp | |
| ENST00000465415.1:n.377T>A | ||
| ENST00000480348.6:n.390T>A | ||
| ENST00000481077.6:c.*121T>A | ENSP00000432057.1:n.*121T>A | |
| ENST00000482227.5:c.332T>A | ENSP00000435880.1:p.Val111Asp | |
| ENST00000525687.5:c.332T>A | ENSP00000437038.1:p.Val111Asp | |
| ENST00000531191.5:c.-443T>A | ENSP00000431817.1:n.-443T>A | |
| NM_001297647.1:c.332T>A | NP_001284576.1:p.Val111Asp | |
| NM_001297648.1:c.-438T>A | NP_001284577.1:n.-438T>A | |
| NM_006314.2:c.332T>A | NP_006305.2:p.Val111Asp | |
| XM_011540484.1:c.-443T>A | XP_011538786.1:n.-443T>A | |
| NM_006314.3:c.332T>A MANE Select | NP_006305.2:p.Val111Asp | |
| NM_001297647.2:c.332T>A | NP_001284576.1:p.Val111Asp | |
| NM_001297648.2:c.-438T>A | NP_001284577.1:n.-438T>A |