Linked Data
ClinVar Variation Id:
312547
dbSNP Id:
rs1535692
ExAC:
13:95034749 G / A
gnomAD v2:
13-95034749-G-A
gnomAD v3:
13-94382495-G-A
gnomAD v4:
13-94382495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94382495G>A , CM000675.2:g.94382495G>A | GRCh38 |
| NC_000013.10:g.95034749G>A , CM000675.1:g.95034749G>A | GRCh37 |
| NC_000013.9:g.93832750G>A | NCBI36 |
| NG_011880.1:g.1160672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.1234G>A MANE Select | ENSP00000366246.3:p.Val412Met | |
| ENST00000377047.8:c.1234G>A | ENSP00000366246.3:p.Val412Met | |
| ENST00000617456.1:c.358G>A | ENSP00000477667.1:p.Val120Met | |
| NM_005708.3:c.1234G>A | NP_005699.1:p.Val412Met | |
| XM_011521044.1:c.1024G>A | XP_011519346.1:p.Val342Met | |
| NM_005708.4:c.1234G>A | NP_005699.1:p.Val412Met | |
| XM_011521044.2:c.1024G>A | XP_011519346.1:p.Val342Met | |
| XM_017020298.1:c.1024G>A | XP_016875787.1:p.Val342Met | |
| XM_017020299.2:c.1024G>A | XP_016875788.1:p.Val342Met | |
| XM_017020300.1:c.1024G>A | XP_016875789.1:p.Val342Met | |
| XM_017020301.1:c.868G>A | XP_016875790.1:p.Val290Met | |
| XM_017020302.1:c.541G>A | XP_016875791.1:p.Val181Met | |
| NM_005708.5:c.1234G>A MANE Select | NP_005699.1:p.Val412Met |