Linked Data
ClinVar Variation Id:
1807431
ClinVar RCV Id:
RCV002475388
dbSNP Id:
rs774540237
ExAC:
6:32008534 A / G
gnomAD v2:
6-32008534-A-G
gnomAD v3:
6-32040757-A-G
gnomAD v4:
6-32040757-A-G
COSMIC:
COSM5658503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040757A>G , CM000668.2:g.32040757A>G | GRCh38 |
| NC_000006.11:g.32008534A>G , CM000668.1:g.32008534A>G | GRCh37 |
| NC_000006.10:g.32116513A>G | NCBI36 |
| NG_007941.2:g.7450A>G | |
| NG_008337.2:g.73618T>C | |
| NG_007941.3:g.7453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1208A>G MANE Select | ENSP00000496625.1:p.His403Arg | |
| ENST00000418967.6:c.1208A>G | ENSP00000408860.2:p.His403Arg | |
| ENST00000435122.3:c.1118A>G | ENSP00000415043.2:p.His373Arg | |
| ENST00000479074.5:n.1349A>G | ||
| ENST00000479730.5:n.1324A>G | ||
| ENST00000483041.5:n.1377A>G | ||
| ENST00000486063.5:n.1187A>G | ||
| NM_000500.7:c.1208A>G | NP_000491.4:p.His403Arg | |
| NM_001128590.3:c.1118A>G | NP_001122062.3:p.His373Arg | |
| XM_011514314.1:c.803A>G | XP_011512616.1:p.His268Arg | |
| NM_000500.9:c.1208A>G MANE Select | NP_000491.4:p.His403Arg | |
| NM_001368143.1:c.803A>G | NP_001355072.1:p.His268Arg | |
| NM_001368144.1:c.803A>G | NP_001355073.1:p.His268Arg | |
| NM_001128590.4:c.1118A>G | NP_001122062.3:p.His373Arg | |
| NM_001368143.2:c.803A>G | NP_001355072.1:p.His268Arg | |
| NM_001368144.2:c.803A>G | NP_001355073.1:p.His268Arg |