Linked Data
dbSNP Id:
rs751099861
ExAC:
12:80752121 A / G
gnomAD v2:
12-80752121-A-G
gnomAD v3:
12-80358341-A-G
gnomAD v4:
12-80358341-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80358341A>G , CM000674.2:g.80358341A>G | GRCh38 |
| NC_000012.11:g.80752121A>G , CM000674.1:g.80752121A>G | GRCh37 |
| NC_000012.10:g.79276252A>G | NCBI36 |
| NG_033008.1:g.153889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.6113A>G MANE Select | ENSP00000447211.2:p.Tyr2038Cys | |
| ENST00000642294.1:c.53A>G | ENSP00000493572.1:p.Tyr18Cys | |
| ENST00000646859.1:c.5978A>G | ENSP00000496036.1:p.Tyr1993Cys | |
| ENST00000298820.7:c.1414A>G | ||
| ENST00000458043.6:c.6086A>G | ENSP00000400895.2:p.Tyr2029Cys | |
| ENST00000546620.5:n.369A>G | ||
| ENST00000547103.5:c.6050A>G | ENSP00000447211.1:p.Tyr2017Cys | |
| ENST00000550182.2:c.137A>G | ENSP00000449641.1:p.Tyr46Cys | |
| ENST00000551340.5:c.241A>G | ||
| NM_173591.3:c.6086A>G | NP_775862.3:p.Tyr2029Cys | |
| XM_005268802.2:c.6137A>G | XP_005268859.1:p.Tyr2046Cys | |
| XM_011538191.1:c.6137A>G | XP_011536493.1:p.Tyr2046Cys | |
| XM_011538192.1:c.5984A>G | XP_011536494.1:p.Tyr1995Cys | |
| XM_011538193.1:c.5771A>G | XP_011536495.1:p.Tyr1924Cys | |
| XM_005268802.3:c.6137A>G | XP_005268859.1:p.Tyr2046Cys | |
| XM_011538192.2:c.5984A>G | XP_011536494.1:p.Tyr1995Cys | |
| NM_001368062.1:c.5951A>G | NP_001354991.1:p.Tyr1984Cys | |
| NM_001368062.3:c.5978A>G | NP_001354991.2:p.Tyr1993Cys | |
| NM_001378609.3:c.6113A>G MANE Select | NP_001365538.2:p.Tyr2038Cys | |
| NM_001378610.3:c.6113A>G | NP_001365539.2:p.Tyr2038Cys | |
| NM_173591.7:c.6113A>G | NP_775862.4:p.Tyr2038Cys |