Linked Data
ClinVar Variation Id:
142913
dbSNP Id:
rs148061139
ExAC:
11:108098524 C / T
gnomAD v2:
11-108098524-C-T
gnomAD v3:
11-108227797-C-T
gnomAD v4:
11-108227797-C-T
PubMed:
PMID:24416720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108227797C>T , CM000673.2:g.108227797C>T | GRCh38 |
| NC_000011.9:g.108098524C>T , CM000673.1:g.108098524C>T | GRCh37 |
| NC_000011.8:g.107603734C>T | NCBI36 |
| NG_009830.1:g.9966C>T , LRG_135:g.9966C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.94C>T | ENSP00000388058.2:p.Arg32Cys | |
| ENST00000683914.2:c.94C>T | ENSP00000507649.1:p.Arg32Cys | |
| ENST00000713593.1:c.94C>T | ENSP00000518889.1:p.Arg32Cys | |
| ENST00000278616.9:c.94C>T | ENSP00000278616.4:p.Arg32Cys | |
| ENST00000682147.1:n.224C>T | ||
| ENST00000682430.1:n.193C>T | ||
| ENST00000682465.1:c.94C>T | ENSP00000508284.1:p.Arg32Cys | |
| ENST00000682516.1:n.228C>T | ||
| ENST00000682956.1:n.228C>T | ||
| ENST00000683150.1:c.94C>T | ENSP00000507125.1:p.Arg32Cys | |
| ENST00000683174.1:n.244C>T | ||
| ENST00000683468.1:c.94C>T | ENSP00000508178.1:p.Arg32Cys | |
| ENST00000683488.1:n.4754C>T | ||
| ENST00000683914.1:c.94C>T | ENSP00000507649.1:p.Arg32Cys | |
| ENST00000684029.1:c.94C>T | ENSP00000508010.1:p.Arg32Cys | |
| ENST00000684037.1:c.94C>T | ENSP00000508245.1:p.Arg32Cys | |
| ENST00000684061.1:n.228C>T | ||
| ENST00000684179.1:n.228C>T | ||
| ENST00000527805.6:c.94C>T | ENSP00000435747.2:p.Arg32Cys | |
| ENST00000638443.1:c.94C>T | ENSP00000491957.1:p.Arg32Cys | |
| ENST00000639240.1:c.94C>T | ENSP00000491585.1:p.Arg32Cys | |
| ENST00000639953.1:c.94C>T | ENSP00000492487.1:p.Arg32Cys | |
| ENST00000640388.1:c.94C>T | ENSP00000492354.1:p.Arg32Cys | |
| ENST00000675595.1:c.94C>T | ENSP00000502563.1:p.Arg32Cys | |
| ENST00000675843.1:c.94C>T MANE Select | ENSP00000501606.1:p.Arg32Cys | |
| ENST00000278616.8:c.94C>T | ENSP00000278616.4:p.Arg32Cys | |
| ENST00000452508.6:c.94C>T | ENSP00000388058.2:p.Arg32Cys | |
| ENST00000526567.5:c.94C>T | ENSP00000480205.1:p.Arg32Cys | |
| ENST00000527805.5:c.94C>T | ENSP00000435747.1:p.Arg32Cys | |
| ENST00000527891.5:c.94C>T | ENSP00000433955.1:p.Arg32Cys | |
| ENST00000530958.5:c.94C>T | ENSP00000483338.1:p.Arg32Cys | |
| ENST00000532931.5:c.94C>T | ENSP00000432318.1:p.Arg32Cys | |
| ENST00000601453.2:c.94C>T | ENSP00000469471.1:p.Arg32Cys | |
| NM_000051.3:c.94C>T , LRG_135t1:c.94C>T | NP_000042.3:p.Arg32Cys | |
| XM_005271561.3:c.94C>T | XP_005271618.2:p.Arg32Cys | |
| XM_005271562.3:c.94C>T | XP_005271619.2:p.Arg32Cys | |
| XM_006718843.2:c.94C>T | XP_006718906.1:p.Arg32Cys | |
| XM_011542840.1:c.94C>T | XP_011541142.1:p.Arg32Cys | |
| XM_011542841.1:c.94C>T | XP_011541143.1:p.Arg32Cys | |
| XM_011542842.1:c.94C>T | XP_011541144.1:p.Arg32Cys | |
| XM_011542843.1:c.94C>T | XP_011541145.1:p.Arg32Cys | |
| XM_011542846.1:c.94C>T | XP_011541148.1:p.Arg32Cys | |
| NM_001351834.1:c.94C>T | NP_001338763.1:p.Arg32Cys | |
| NM_001351835.1:c.94C>T | NP_001338764.1:p.Arg32Cys | |
| NM_001351836.1:c.94C>T | NP_001338765.1:p.Arg32Cys | |
| XM_005271562.5:c.94C>T | XP_005271619.2:p.Arg32Cys | |
| XM_006718843.4:c.94C>T | XP_006718906.1:p.Arg32Cys | |
| XM_011542840.3:c.94C>T | XP_011541142.1:p.Arg32Cys | |
| XM_011542842.3:c.94C>T | XP_011541144.1:p.Arg32Cys | |
| XM_011542843.2:c.94C>T | XP_011541145.1:p.Arg32Cys | |
| XM_011542844.3:c.-929C>T | XP_011541146.1:n.-929C>T | |
| XM_017017789.2:c.94C>T | XP_016873278.1:p.Arg32Cys | |
| XM_017017790.2:c.94C>T | XP_016873279.1:p.Arg32Cys | |
| XM_017017791.1:c.94C>T | XP_016873280.1:p.Arg32Cys | |
| XM_017017792.2:c.94C>T | XP_016873281.1:p.Arg32Cys | |
| XR_002957150.1:n.827C>T | ||
| NM_001351834.2:c.94C>T | NP_001338763.1:p.Arg32Cys | |
| NM_000051.4:c.94C>T MANE Select | NP_000042.3:p.Arg32Cys | |
| NM_001351835.2:c.94C>T | NP_001338764.1:p.Arg32Cys | |
| NM_001351836.2:c.94C>T | NP_001338765.1:p.Arg32Cys |