Linked Data
ClinVar Variation Id:
208085
ClinVar RCV Id:
RCV000193211
dbSNP Id:
rs797044844
gnomAD v4:
7-148829754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148829754T>C , CM000669.2:g.148829754T>C | GRCh38 |
| NC_000007.13:g.148526846T>C , CM000669.1:g.148526846T>C | GRCh37 |
| NC_000007.12:g.148157779T>C | NCBI36 |
| NG_032043.1:g.59596A>G , LRG_531:g.59596A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.606A>G | ||
| ENST00000682317.1:c.341A>G | ENSP00000508286.1:p.Tyr114Cys | |
| ENST00000682401.1:n.473A>G | ||
| ENST00000683292.1:c.131A>G | ENSP00000507503.1:p.Tyr44Cys | |
| ENST00000683744.1:c.458A>G | ENSP00000506949.1:p.Tyr153Cys | |
| ENST00000684300.1:c.341A>G | ENSP00000508407.1:p.Tyr114Cys | |
| ENST00000320356.7:c.458A>G MANE Select | ENSP00000320147.2:p.Tyr153Cys | |
| ENST00000320356.6:c.458A>G | ENSP00000320147.2:p.Tyr153Cys | |
| ENST00000350995.6:c.341A>G | ENSP00000223193.2:p.Tyr114Cys | |
| ENST00000460911.5:c.458A>G | ENSP00000419711.1:p.Tyr153Cys | |
| ENST00000476773.5:c.431A>G | ENSP00000419050.1:p.Tyr144Cys | |
| ENST00000478654.5:c.431A>G | ENSP00000417062.1:p.Tyr144Cys | |
| ENST00000483012.1:c.*202A>G | ENSP00000417704.1:n.*202A>G | |
| ENST00000483967.5:c.431A>G | ENSP00000419856.1:p.Tyr144Cys | |
| ENST00000492143.5:c.458A>G | ENSP00000417377.1:p.Tyr153Cys | |
| ENST00000498186.5:n.589A>G | ||
| NM_001203247.1:c.458A>G | NP_001190176.1:p.Tyr153Cys | |
| NM_001203248.1:c.431A>G | NP_001190177.1:p.Tyr144Cys | |
| NM_001203249.1:c.431A>G | NP_001190178.1:p.Tyr144Cys | |
| NM_004456.4:c.458A>G , LRG_531t1:c.458A>G | NP_004447.2:p.Tyr153Cys | |
| NM_152998.2:c.341A>G | NP_694543.1:p.Tyr114Cys | |
| XM_005249962.3:c.482A>G | XP_005250019.1:p.Tyr161Cys | |
| XM_005249963.3:c.455A>G | XP_005250020.1:p.Tyr152Cys | |
| XM_005249964.3:c.455A>G | XP_005250021.1:p.Tyr152Cys | |
| XM_011515883.1:c.482A>G | XP_011514185.1:p.Tyr161Cys | |
| XM_011515884.1:c.458A>G | XP_011514186.1:p.Tyr153Cys | |
| XM_011515885.1:c.455A>G | XP_011514187.1:p.Tyr152Cys | |
| XM_011515886.1:c.434A>G | XP_011514188.1:p.Tyr145Cys | |
| XM_011515887.1:c.431A>G | XP_011514189.1:p.Tyr144Cys | |
| XM_011515888.1:c.431A>G | XP_011514190.1:p.Tyr144Cys | |
| XM_011515889.1:c.392A>G | XP_011514191.1:p.Tyr131Cys | |
| XM_011515890.1:c.365A>G | XP_011514192.1:p.Tyr122Cys | |
| XM_011515891.1:c.359A>G | XP_011514193.1:p.Tyr120Cys | |
| XM_011515892.1:c.482A>G | XP_011514194.1:p.Tyr161Cys | |
| XM_011515893.1:c.365A>G | XP_011514195.1:p.Tyr122Cys | |
| XM_011515894.1:c.341A>G | XP_011514196.1:p.Tyr114Cys | |
| XM_011515895.1:c.338A>G | XP_011514197.1:p.Tyr113Cys | |
| XM_011515896.1:c.365A>G | XP_011514198.1:p.Tyr122Cys | |
| XM_011515897.1:c.131A>G | XP_011514199.1:p.Tyr44Cys | |
| XM_011515898.1:c.131A>G | XP_011514200.1:p.Tyr44Cys | |
| XM_011515899.1:c.482A>G | XP_011514201.1:p.Tyr161Cys | |
| XM_011515900.1:c.482A>G | XP_011514202.1:p.Tyr161Cys | |
| XM_011515901.1:c.482A>G | XP_011514203.1:p.Tyr161Cys | |
| XM_011515902.1:c.482A>G | XP_011514204.1:p.Tyr161Cys | |
| XM_005249962.4:c.482A>G | XP_005250019.1:p.Tyr161Cys | |
| XM_005249963.4:c.455A>G | XP_005250020.1:p.Tyr152Cys | |
| XM_005249964.4:c.455A>G | XP_005250021.1:p.Tyr152Cys | |
| XM_011515883.2:c.482A>G | XP_011514185.1:p.Tyr161Cys | |
| XM_011515884.2:c.458A>G | XP_011514186.1:p.Tyr153Cys | |
| XM_011515885.2:c.455A>G | XP_011514187.1:p.Tyr152Cys | |
| XM_011515886.2:c.434A>G | XP_011514188.1:p.Tyr145Cys | |
| XM_011515887.3:c.431A>G | XP_011514189.1:p.Tyr144Cys | |
| XM_011515888.2:c.431A>G | XP_011514190.1:p.Tyr144Cys | |
| XM_011515889.2:c.392A>G | XP_011514191.1:p.Tyr131Cys | |
| XM_011515890.2:c.365A>G | XP_011514192.1:p.Tyr122Cys | |
| XM_011515891.3:c.359A>G | XP_011514193.1:p.Tyr120Cys | |
| XM_011515892.2:c.482A>G | XP_011514194.1:p.Tyr161Cys | |
| XM_011515893.2:c.365A>G | XP_011514195.1:p.Tyr122Cys | |
| XM_011515894.2:c.341A>G | XP_011514196.1:p.Tyr114Cys | |
| XM_011515895.2:c.338A>G | XP_011514197.1:p.Tyr113Cys | |
| XM_011515896.2:c.365A>G | XP_011514198.1:p.Tyr122Cys | |
| XM_011515897.2:c.131A>G | XP_011514199.1:p.Tyr44Cys | |
| XM_011515898.2:c.131A>G | XP_011514200.1:p.Tyr44Cys | |
| XM_011515899.3:c.482A>G | XP_011514201.1:p.Tyr161Cys | |
| XM_011515901.3:c.482A>G | XP_011514203.1:p.Tyr161Cys | |
| XM_017011817.2:c.482A>G | XP_016867306.1:p.Tyr161Cys | |
| XM_017011818.1:c.434A>G | XP_016867307.1:p.Tyr145Cys | |
| XM_017011819.1:c.482A>G | XP_016867308.1:p.Tyr161Cys | |
| XM_017011820.2:c.314A>G | XP_016867309.1:p.Tyr105Cys | |
| XM_017011821.1:c.131A>G | XP_016867310.1:p.Tyr44Cys | |
| XM_024446680.1:c.359A>G | XP_024302448.1:p.Tyr120Cys | |
| XR_001744581.1:n.3097A>G | ||
| XR_002956413.1:n.3095A>G | ||
| XR_002956414.1:n.3097A>G | ||
| NM_001203247.2:c.458A>G | NP_001190176.1:p.Tyr153Cys | |
| NM_001203248.2:c.431A>G | NP_001190177.1:p.Tyr144Cys | |
| NM_001203249.2:c.431A>G | NP_001190178.1:p.Tyr144Cys | |
| NM_004456.5:c.458A>G MANE Select | NP_004447.2:p.Tyr153Cys | |
| NM_152998.3:c.341A>G | NP_694543.1:p.Tyr114Cys |