Linked Data
dbSNP Id:
rs373120552
ExAC:
10:131565127 G / A
gnomAD v2:
10-131565127-G-A
gnomAD v3:
10-129766863-G-A
gnomAD v4:
10-129766863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766863G>A , CM000672.2:g.129766863G>A | GRCh38 |
| NC_000010.10:g.131565127G>A , CM000672.1:g.131565127G>A | GRCh37 |
| NC_000010.9:g.131455117G>A | NCBI36 |
| NG_052673.1:g.304680G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.583G>A | ENSP00000302111.7:p.Val195Met | |
| ENST00000651593.1:c.490G>A MANE Select | ENSP00000498729.1:p.Val164Met | |
| ENST00000306010.7:c.583G>A | ENSP00000302111.7:p.Val195Met | |
| NM_002412.3:c.583G>A | NP_002403.2:p.Val195Met | |
| NM_002412.4:c.583G>A | NP_002403.2:p.Val195Met | |
| XM_005252682.2:c.490G>A | XP_005252739.1:p.Val164Met | |
| XM_006717863.2:c.313G>A | XP_006717926.1:p.Val105Met | |
| XM_011539817.1:c.499G>A | XP_011538119.1:p.Val167Met | |
| NM_002412.5:c.490G>A MANE Select | NP_002403.3:p.Val164Met | |
| XM_017016275.1:c.313G>A | XP_016871764.1:p.Val105Met |