Linked Data
ClinVar Variation Id:
2197422
ClinVar RCV Id:
RCV002651342
dbSNP Id:
rs1333072178
gnomAD v2:
1-110171331-C-T
gnomAD v4:
1-109628709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628709C>T , CM000663.2:g.109628709C>T | GRCh38 |
| NC_000001.10:g.110171331C>T , CM000663.1:g.110171331C>T | GRCh37 |
| NC_000001.9:g.109972854C>T | NCBI36 |
| NG_034075.1:g.13897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1474C>T | ENSP00000256578.4:p.Arg492Cys | |
| ENST00000358729.9:c.1474C>T | ENSP00000351573.5:p.Arg492Cys | |
| ENST00000369840.7:c.1474C>T | ENSP00000358855.3:p.Arg492Cys | |
| ENST00000474459.6:n.2093C>T | ||
| ENST00000476688.3:c.1156C>T | ENSP00000437025.2:p.Arg386Cys | |
| ENST00000486282.7:n.2430C>T | ||
| ENST00000524975.2:n.1955C>T | ||
| ENST00000525415.2:n.1990C>T | ||
| ENST00000526301.6:n.1537C>T | ||
| ENST00000527846.7:n.1329C>T | ||
| ENST00000528667.7:c.1474C>T MANE Select | ENSP00000436541.2:p.Arg492Cys | |
| ENST00000531203.6:c.1282C>T | ENSP00000431975.2:p.Arg428Cys | |
| ENST00000531734.6:c.1393C>T | ENSP00000433739.2:p.Arg465Cys | |
| ENST00000652975.2:c.*1226C>T | ENSP00000499620.2:n.*1226C>T | |
| ENST00000654851.1:n.1316C>T | ||
| ENST00000655992.1:c.1282C>T | ENSP00000499740.1:p.Arg428Cys | |
| ENST00000659122.2:c.1407+214C>T | ENSP00000499621.2:n.1407+214C>T | |
| ENST00000663749.1:c.*1221C>T | ENSP00000499739.1:n.*1221C>T | |
| ENST00000667949.2:c.874C>T | ENSP00000499465.2:p.Arg292Cys | |
| ENST00000668421.1:c.*1415C>T | ENSP00000499362.1:n.*1415C>T | |
| ENST00000679379.1:c.*1226C>T | ENSP00000505528.1:n.*1226C>T | |
| ENST00000679593.1:c.1474C>T | ENSP00000505999.1:p.Arg492Cys | |
| ENST00000679880.1:n.2010C>T | ||
| ENST00000679892.1:c.*1242C>T | ENSP00000504882.1:n.*1242C>T | |
| ENST00000679981.1:c.*1488C>T | ENSP00000506422.1:n.*1488C>T | |
| ENST00000680132.1:c.*1424C>T | ENSP00000505950.1:n.*1424C>T | |
| ENST00000680148.1:c.*1226C>T | ENSP00000505994.1:n.*1226C>T | |
| ENST00000680170.1:n.2339C>T | ||
| ENST00000680192.1:n.2432C>T | ||
| ENST00000680519.1:n.1710C>T | ||
| ENST00000680531.1:c.*1221C>T | ENSP00000506332.1:n.*1221C>T | |
| ENST00000680820.1:c.*1226C>T | ENSP00000505735.1:n.*1226C>T | |
| ENST00000680832.1:c.*1574C>T | ENSP00000505774.1:n.*1574C>T | |
| ENST00000680929.1:c.*1163C>T | ENSP00000504916.1:n.*1163C>T | |
| ENST00000681108.1:c.*1245+214C>T | ENSP00000506701.1:n.*1245+214C>T | |
| ENST00000681121.1:c.*584C>T | ENSP00000506466.1:n.*584C>T | |
| ENST00000681132.1:c.*1240C>T | ENSP00000506195.1:n.*1240C>T | |
| ENST00000681181.1:c.*1459C>T | ENSP00000506038.1:n.*1459C>T | |
| ENST00000681218.1:c.*1747C>T | ENSP00000505976.1:n.*1747C>T | |
| ENST00000681246.1:c.*1130C>T | ENSP00000505534.1:n.*1130C>T | |
| ENST00000681496.1:c.*1747C>T | ENSP00000505948.1:n.*1747C>T | |
| ENST00000681834.1:n.1813C>T | ||
| ENST00000681862.1:c.*1600C>T | ENSP00000505537.1:n.*1600C>T | |
| ENST00000256578.7:c.1636C>T | ENSP00000256578.3:p.Arg546Cys | |
| ENST00000342115.8:c.1393C>T | ENSP00000345498.4:p.Arg465Cys | |
| ENST00000358729.8:c.1411C>T | ENSP00000351573.4:p.Arg471Cys | |
| ENST00000369840.6:c.1547C>T | ||
| ENST00000393688.7:c.1279C>T | ENSP00000377292.3:p.Arg427Cys | |
| ENST00000526301.5:n.1675C>T | ||
| ENST00000528454.5:c.1282C>T | ENSP00000437164.1:p.Arg428Cys | |
| ENST00000528667.5:c.1636C>T | ENSP00000436541.1:p.Arg546Cys | |
| ENST00000532851.1:n.184C>T | ||
| ENST00000533132.1:n.176C>T | ||
| NM_001257360.1:c.1636C>T | NP_001244289.1:p.Arg546Cys | |
| NM_001257361.1:c.1282C>T | NP_001244290.1:p.Arg428Cys | |
| NM_001308170.1:c.1411C>T | NP_001295099.1:p.Arg471Cys | |
| NM_004037.7:c.1636C>T | NP_004028.3:p.Arg546Cys | |
| NM_139156.3:c.1393C>T | NP_631895.1:p.Arg465Cys | |
| NM_203404.1:c.1279C>T | NP_981949.1:p.Arg427Cys | |
| XM_011541247.1:c.1849C>T | XP_011539549.1:p.Arg617Cys | |
| XM_011541248.1:c.1782+214C>T | XP_011539550.1:n.1782+214C>T | |
| XR_946607.1:n.1872C>T | ||
| XM_024446431.1:c.1411C>T | XP_024302199.1:p.Arg471Cys | |
| XM_024446432.1:c.1430+214C>T | XP_024302200.1:n.1430+214C>T | |
| XR_002956282.1:n.2047C>T | ||
| NM_001257360.2:c.1636C>T | NP_001244289.1:p.Arg546Cys | |
| NM_001368809.2:c.1474C>T MANE Select | NP_001355738.1:p.Arg492Cys | |
| NM_004037.9:c.1474C>T | NP_004028.4:p.Arg492Cys | |
| NM_001257361.2:c.1282C>T | NP_001244290.1:p.Arg428Cys | |
| NM_139156.4:c.1393C>T | NP_631895.1:p.Arg465Cys |