Linked Data
ClinVar Variation Id:
504596
ClinVar RCV Id:
RCV001854134
dbSNP Id:
rs140567004
ExAC:
3:121712299 G / A
gnomAD v2:
3-121712299-G-A
gnomAD v3:
3-121993452-G-A
gnomAD v4:
3-121993452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993452G>A , CM000665.2:g.121993452G>A | GRCh38 |
| NC_000003.11:g.121712299G>A , CM000665.1:g.121712299G>A | GRCh37 |
| NC_000003.10:g.123194989G>A | NCBI36 |
| NG_031870.1:g.33829C>T | |
| NG_031870.2:g.72103C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344209.10:c.1297C>T MANE Select | ENSP00000345667.5:p.Arg433Trp | |
| ENST00000460554.2:n.1247C>T | ||
| ENST00000642615.1:c.*480C>T | ENSP00000495499.1:n.*480C>T | |
| ENST00000273691.7:c.1165C>T | ENSP00000273691.3:p.Arg389Trp | |
| ENST00000344209.9:c.1297C>T | ENSP00000345667.5:p.Arg433Trp | |
| ENST00000393631.5:c.1030C>T | ENSP00000377251.1:p.Arg344Trp | |
| ENST00000460554.1:n.1399C>T | ||
| ENST00000462014.1:c.1201C>T | ENSP00000419414.1:p.Arg401Trp | |
| NM_001199799.1:c.1297C>T | NP_001186728.1:p.Arg433Trp | |
| NM_001199800.1:c.1030C>T | NP_001186729.1:p.Arg344Trp | |
| NM_175924.3:c.1165C>T | NP_787120.1:p.Arg389Trp | |
| XM_005247389.3:c.1201C>T | XP_005247446.1:p.Arg401Trp | |
| XM_011512738.1:c.1297C>T | XP_011511040.1:p.Arg433Trp | |
| XM_011512739.1:c.760C>T | XP_011511041.1:p.Arg254Trp | |
| XM_005247389.4:c.1201C>T | XP_005247446.1:p.Arg401Trp | |
| XM_011512738.2:c.1297C>T | XP_011511040.1:p.Arg433Trp | |
| XM_011512739.2:c.760C>T | XP_011511041.1:p.Arg254Trp | |
| NM_001199799.2:c.1297C>T MANE Select | NP_001186728.1:p.Arg433Trp | |
| NM_001199800.2:c.1030C>T | NP_001186729.1:p.Arg344Trp | |
| NM_175924.4:c.1165C>T | NP_787120.1:p.Arg389Trp |