Linked Data
ClinVar Variation Id:
2649154
ClinVar RCV Id:
RCV003423271
dbSNP Id:
rs140250213
ExAC:
19:7437716 C / T
gnomAD v2:
19-7437716-C-T
gnomAD v3:
19-7372830-C-T
gnomAD v4:
19-7372830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7372830C>T , CM000681.2:g.7372830C>T | GRCh38 |
| NC_000019.9:g.7437716C>T , CM000681.1:g.7437716C>T | GRCh37 |
| NC_000019.8:g.7343716C>T | NCBI36 |
| NG_047135.1:g.28920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000668164.2:c.34C>T MANE Select | ENSP00000499655.2:p.Arg12Trp | |
| ENST00000671891.2:c.229C>T | ENSP00000500339.2:p.Arg77Trp | |
| ENST00000576789.1:c.34C>T | ENSP00000458866.1:p.Arg12Trp | |
| XM_005272464.3:c.229C>T | XP_005272521.1:p.Arg77Trp | |
| XM_006722705.2:c.34C>T | XP_006722768.1:p.Arg12Trp | |
| XM_006722706.2:c.34C>T | XP_006722769.1:p.Arg12Trp | |
| XM_011527835.1:c.229C>T | XP_011526137.1:p.Arg77Trp | |
| XM_011527836.1:c.229C>T | XP_011526138.1:p.Arg77Trp | |
| XM_011527837.1:c.229C>T | XP_011526139.1:p.Arg77Trp | |
| XM_011527838.1:c.34C>T | XP_011526140.1:p.Arg12Trp | |
| XM_011527839.1:c.-15C>T | XP_011526141.1:n.-15C>T | |
| XM_011527841.1:c.229C>T | XP_011526143.1:p.Arg77Trp | |
| XM_005272464.4:c.229C>T | XP_005272521.1:p.Arg77Trp | |
| XM_006722705.3:c.34C>T | XP_006722768.1:p.Arg12Trp | |
| XM_006722706.3:c.34C>T | XP_006722769.1:p.Arg12Trp | |
| XM_011527835.2:c.229C>T | XP_011526137.1:p.Arg77Trp | |
| XM_011527836.2:c.229C>T | XP_011526138.1:p.Arg77Trp | |
| XM_011527837.2:c.229C>T | XP_011526139.1:p.Arg77Trp | |
| XM_011527838.3:c.34C>T | XP_011526140.1:p.Arg12Trp | |
| XM_011527839.2:c.-15C>T | XP_011526141.1:n.-15C>T | |
| XM_011527841.2:c.229C>T | XP_011526143.1:p.Arg77Trp | |
| NM_001367823.1:c.34C>T MANE Select | NP_001354752.1:p.Arg12Trp |