Linked Data
ClinVar Variation Id:
540289
dbSNP Id:
rs201656753
ExAC:
8:38111164 A / G
gnomAD v2:
8-38111164-A-G
gnomAD v3:
8-38253646-A-G
gnomAD v4:
8-38253646-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38253646A>G , CM000670.2:g.38253646A>G | GRCh38 |
| NC_000008.10:g.38111164A>G , CM000670.1:g.38111164A>G | GRCh37 |
| NC_000008.9:g.38230321A>G | NCBI36 |
| NG_033875.1:g.27156A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1982A>G MANE Select | ENSP00000380352.2:p.Tyr661Cys | |
| ENST00000397166.6:c.1982A>G | ENSP00000380352.2:p.Tyr661Cys | |
| ENST00000517385.5:c.839A>G | ENSP00000429017.1:p.Tyr280Cys | |
| ENST00000520176.5:n.2771A>G | ||
| ENST00000520272.6:c.1982A>G | ENSP00000429932.2:p.Tyr661Cys | |
| ENST00000526144.1:c.487A>G | ||
| ENST00000528613.1:c.86A>G | ENSP00000435040.1:p.Tyr29Cys | |
| ENST00000529845.5:c.335A>G | ENSP00000431638.1:p.Tyr112Cys | |
| NM_001164232.1:c.1982A>G | NP_001157704.1:p.Tyr661Cys | |
| NM_015214.2:c.1982A>G | NP_056029.2:p.Tyr661Cys | |
| XM_005273454.1:c.1982A>G | XP_005273511.1:p.Tyr661Cys | |
| XM_005273455.2:c.1982A>G | XP_005273512.1:p.Tyr661Cys | |
| XM_005273456.2:c.1892A>G | XP_005273513.1:p.Tyr631Cys | |
| XM_005273457.2:c.839A>G | XP_005273514.1:p.Tyr280Cys | |
| XM_011544455.1:c.1982A>G | XP_011542757.1:p.Tyr661Cys | |
| XM_011544456.1:c.1982A>G | XP_011542758.1:p.Tyr661Cys | |
| XR_949383.1:n.2507A>G | ||
| XR_949384.1:n.2507A>G | ||
| XR_949385.1:n.2507A>G | ||
| XR_949386.1:n.2507A>G | ||
| XR_949387.1:n.2507A>G | ||
| NM_001362911.1:c.1982A>G | NP_001349840.1:p.Tyr661Cys | |
| NM_001362912.1:c.1982A>G | NP_001349841.1:p.Tyr661Cys | |
| NM_001362913.1:c.1892A>G | NP_001349842.1:p.Tyr631Cys | |
| NM_001362914.1:c.1982A>G | NP_001349843.1:p.Tyr661Cys | |
| NR_156416.1:n.2291A>G | ||
| NR_156417.1:n.2291A>G | ||
| XM_011544456.2:c.1982A>G | XP_011542758.1:p.Tyr661Cys | |
| XM_017013255.2:c.839A>G | XP_016868744.1:p.Tyr280Cys | |
| XR_001745504.2:n.2265A>G | ||
| XR_001745506.2:n.2197A>G | ||
| NM_001362911.2:c.1982A>G | NP_001349840.1:p.Tyr661Cys | |
| NM_001362912.2:c.1982A>G | NP_001349841.1:p.Tyr661Cys | |
| NM_015214.3:c.1982A>G MANE Select | NP_056029.2:p.Tyr661Cys | |
| NR_156417.2:n.2197A>G | ||
| NM_001164232.2:c.1982A>G | NP_001157704.1:p.Tyr661Cys | |
| NM_001362913.2:c.1892A>G | NP_001349842.1:p.Tyr631Cys | |
| NM_001362914.2:c.1982A>G | NP_001349843.1:p.Tyr661Cys | |
| NR_156416.2:n.2197A>G |