Linked Data
ClinVar Variation Id:
445528
dbSNP Id:
rs146661281
ExAC:
11:126145709 C / T
gnomAD v2:
11-126145709-C-T
gnomAD v3:
11-126275814-C-T
gnomAD v4:
11-126275814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275814C>T , CM000673.2:g.126275814C>T | GRCh38 |
| NC_000011.9:g.126145709C>T , CM000673.1:g.126145709C>T | GRCh37 |
| NC_000011.8:g.125650919C>T | NCBI36 |
| NG_028029.1:g.11775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1237C>T | ||
| ENST00000532101.6:n.856C>T | ||
| ENST00000532125.2:c.751C>T | ENSP00000434178.2:p.Arg251Cys | |
| ENST00000533839.6:c.106C>T | ENSP00000509952.1:p.Arg36Cys | |
| ENST00000534011.6:n.1046C>T | ||
| ENST00000685484.1:c.754C>T | ENSP00000510622.1:p.Arg252Cys | |
| ENST00000685601.1:c.754C>T | ENSP00000510603.1:p.Arg252Cys | |
| ENST00000685765.1:c.754C>T | ENSP00000509991.1:p.Arg252Cys | |
| ENST00000685844.1:c.*291C>T | ENSP00000509820.1:n.*291C>T | |
| ENST00000685857.1:n.1858C>T | ||
| ENST00000686242.1:c.553C>T | ENSP00000508950.1:n.553C>T | |
| ENST00000686888.1:c.*321C>T | ENSP00000509619.1:n.*321C>T | |
| ENST00000687699.1:c.878C>T | ENSP00000508878.1:n.878C>T | |
| ENST00000687786.1:n.2190C>T | ||
| ENST00000688100.1:n.1675C>T | ||
| ENST00000688588.1:c.754C>T | ENSP00000510802.1:p.Arg252Cys | |
| ENST00000688927.1:n.2965C>T | ||
| ENST00000689283.1:c.*417C>T | ENSP00000509050.1:n.*417C>T | |
| ENST00000689477.1:c.*647C>T | ENSP00000508945.1:n.*647C>T | |
| ENST00000689765.1:c.*247C>T | ENSP00000509625.1:n.*247C>T | |
| ENST00000690512.1:c.*605C>T | ENSP00000509793.1:n.*605C>T | |
| ENST00000692039.1:c.*552C>T | ENSP00000508821.1:n.*552C>T | |
| ENST00000692336.1:c.778C>T | ENSP00000508540.1:p.Arg260Cys | |
| ENST00000693133.1:n.1599C>T | ||
| ENST00000263578.10:c.754C>T MANE Select | ENSP00000263578.5:p.Arg252Cys | |
| ENST00000263578.9:c.754C>T | ENSP00000263578.5:p.Arg252Cys | |
| ENST00000525083.5:n.474C>T | ||
| ENST00000525770.5:c.*386C>T | ENSP00000434739.1:n.*386C>T | |
| ENST00000527004.5:c.*98C>T | ENSP00000436374.1:n.*98C>T | |
| ENST00000530642.1:n.1901C>T | ||
| ENST00000532101.5:n.977C>T | ||
| ENST00000532125.1:c.712C>T | ENSP00000434178.1:p.Arg238Cys | |
| ENST00000533395.5:n.487C>T | ||
| ENST00000533839.5:n.258C>T | ||
| ENST00000534011.5:n.806C>T | ||
| ENST00000534315.5:n.1066C>T | ||
| NM_017547.3:c.754C>T | NP_060017.1:p.Arg252Cys | |
| NR_037647.1:n.700C>T | ||
| NR_037648.1:n.940C>T | ||
| XM_006718879.2:c.244C>T | XP_006718942.1:p.Arg82Cys | |
| XM_006718880.2:c.121C>T | XP_006718943.1:p.Arg41Cys | |
| XM_006718881.2:c.121C>T | XP_006718944.1:p.Arg41Cys | |
| XM_011542895.1:c.244C>T | XP_011541197.1:p.Arg82Cys | |
| XM_011542896.1:c.244C>T | XP_011541198.1:p.Arg82Cys | |
| XM_006718879.3:c.244C>T | XP_006718942.1:p.Arg82Cys | |
| XM_006718881.3:c.121C>T | XP_006718944.1:p.Arg41Cys | |
| XM_011542895.2:c.244C>T | XP_011541197.1:p.Arg82Cys | |
| XM_011542896.2:c.244C>T | XP_011541198.1:p.Arg82Cys | |
| XM_017018000.2:c.754C>T | XP_016873489.1:p.Arg252Cys | |
| XM_017018001.1:c.244C>T | XP_016873490.1:p.Arg82Cys | |
| XM_017018002.1:c.244C>T | XP_016873491.1:p.Arg82Cys | |
| XM_017018003.2:c.121C>T | XP_016873492.1:p.Arg41Cys | |
| XM_017018004.1:c.121C>T | XP_016873493.1:p.Arg41Cys | |
| XM_017018005.1:c.121C>T | XP_016873494.1:p.Arg41Cys | |
| XM_017018006.2:c.121C>T | XP_016873495.1:p.Arg41Cys | |
| NM_017547.4:c.754C>T MANE Select | NP_060017.1:p.Arg252Cys | |
| NR_037647.2:n.586C>T | ||
| NR_037648.2:n.931C>T |