Linked Data
ClinVar Variation Id:
1905810
ClinVar RCV Id:
RCV002588886
dbSNP Id:
rs1452581149
gnomAD v2:
1-41285080-A-G
gnomAD v3:
1-40819408-A-G
gnomAD v4:
1-40819408-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819408A>G , CM000663.2:g.40819408A>G | GRCh38 |
| NC_000001.10:g.41285080A>G , CM000663.1:g.41285080A>G | GRCh37 |
| NC_000001.9:g.41057667A>G | NCBI36 |
| NG_008139.1:g.40397A>G | |
| NG_008139.2:g.40397A>G | |
| NG_008139.3:g.40622A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.770A>G MANE Select | ENSP00000262916.6:p.Tyr257Cys | |
| ENST00000347132.9:c.770A>G | ENSP00000262916.6:p.Tyr257Cys | |
| ENST00000443478.3:c.456A>G | ||
| ENST00000506017.1:n.89A>G | ||
| ENST00000509682.6:c.770A>G | ENSP00000423756.2:p.Tyr257Cys | |
| NM_004700.3:c.770A>G | NP_004691.2:p.Tyr257Cys | |
| NM_172163.2:c.770A>G | NP_751895.1:p.Tyr257Cys | |
| XM_011542417.1:c.770A>G | XP_011540719.1:p.Tyr257Cys | |
| XM_011542418.1:c.770A>G | XP_011540720.1:p.Tyr257Cys | |
| XM_011542419.1:c.770A>G | XP_011540721.1:p.Tyr257Cys | |
| XM_011542420.1:c.770A>G | XP_011540722.1:p.Tyr257Cys | |
| XR_946798.1:n.776A>G | ||
| XR_946799.1:n.776A>G | ||
| XR_946800.1:n.776A>G | ||
| XM_017002792.1:c.-248A>G | XP_016858281.1:n.-248A>G | |
| NM_004700.4:c.770A>G MANE Select | NP_004691.2:p.Tyr257Cys | |
| NM_172163.3:c.770A>G | NP_751895.1:p.Tyr257Cys |