Linked Data
ClinVar Variation Id:
960159
ClinVar RCV Id:
RCV001233630
dbSNP Id:
rs748192891
ExAC:
1:161823102 C / T
gnomAD v2:
1-161823102-C-T
gnomAD v4:
1-161853312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161853312C>T , CM000663.2:g.161853312C>T | GRCh38 |
| NC_000001.10:g.161823102C>T , CM000663.1:g.161823102C>T | GRCh37 |
| NC_000001.9:g.160089726C>T | NCBI36 |
| NG_029773.1:g.92069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.1522C>T MANE Select | ENSP00000356919.3:p.Arg508Cys | |
| ENST00000679833.1:c.1522C>T | ENSP00000505321.1:p.Arg508Cys | |
| ENST00000679853.1:c.1522C>T | ENSP00000506149.1:p.Arg508Cys | |
| ENST00000679886.1:c.916C>T | ENSP00000506559.1:p.Arg306Cys | |
| ENST00000680180.1:n.1562C>T | ||
| ENST00000680462.1:c.1522C>T | ENSP00000505583.1:p.Arg508Cys | |
| ENST00000680481.1:c.*1145C>T | ENSP00000505919.1:n.*1145C>T | |
| ENST00000680688.1:c.1579C>T | ENSP00000504865.1:p.Arg527Cys | |
| ENST00000681001.1:c.*1374C>T | ENSP00000506145.1:n.*1374C>T | |
| ENST00000681036.1:c.1324C>T | ENSP00000505474.1:p.Arg442Cys | |
| ENST00000681169.1:c.*440C>T | ENSP00000505455.1:n.*440C>T | |
| ENST00000681187.1:n.1562C>T | ||
| ENST00000681492.1:c.1522C>T | ENSP00000506139.1:p.Arg508Cys | |
| ENST00000681541.1:c.1324C>T | ENSP00000506087.1:p.Arg442Cys | |
| ENST00000681557.1:c.*1323C>T | ENSP00000506229.1:n.*1323C>T | |
| ENST00000681738.1:c.1522C>T | ENSP00000505025.1:p.Arg508Cys | |
| ENST00000681779.1:n.1572C>T | ||
| ENST00000681801.1:c.1522C>T | ENSP00000505998.1:p.Arg508Cys | |
| ENST00000681912.1:c.1138C>T | ENSP00000505875.1:p.Arg380Cys | |
| ENST00000367942.3:c.1522C>T | ENSP00000356919.3:p.Arg508Cys | |
| ENST00000476437.1:n.729C>T | ||
| NM_007348.3:c.1522C>T | NP_031374.2:p.Arg508Cys | |
| XM_006711224.1:c.1522C>T | XP_006711287.1:p.Arg508Cys | |
| XM_011509308.1:c.1579C>T | XP_011507610.1:p.Arg527Cys | |
| XM_011509309.1:c.1579C>T | XP_011507611.1:p.Arg527Cys | |
| XM_011509310.1:c.1579C>T | XP_011507612.1:p.Arg527Cys | |
| XM_011509310.2:c.1579C>T | XP_011507612.1:p.Arg527Cys | |
| NM_007348.4:c.1522C>T MANE Select | NP_031374.2:p.Arg508Cys |