Linked Data
ClinVar Variation Id:
1586082
ClinVar RCV Id:
RCV002098009
dbSNP Id:
rs141169560
ExAC:
10:96313886 C / T
gnomAD v2:
10-96313886-C-T
gnomAD v3:
10-94554129-C-T
gnomAD v4:
10-94554129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94554129C>T , CM000672.2:g.94554129C>T | GRCh38 |
| NC_000010.10:g.96313886C>T , CM000672.1:g.96313886C>T | GRCh37 |
| NC_000010.9:g.96303876C>T | NCBI36 |
| NG_047057.1:g.13363C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371332.9:c.157C>T | ENSP00000360383.6:p.Arg53Cys | |
| ENST00000394036.6:c.157C>T | ENSP00000377601.2:p.Arg53Cys | |
| ENST00000394045.6:c.157C>T | ENSP00000377609.1:p.Arg53Cys | |
| ENST00000419900.6:c.109C>T | ENSP00000409945.2:p.Arg37Cys | |
| ENST00000475263.2:n.157C>T | ||
| ENST00000630929.3:c.157C>T | ENSP00000485823.1:p.Arg53Cys | |
| ENST00000698650.1:n.126C>T | ||
| ENST00000698651.1:n.291C>T | ||
| ENST00000698673.1:c.*57C>T | ENSP00000513870.1:n.*57C>T | |
| ENST00000698675.1:c.157C>T | ENSP00000513940.1:p.Arg53Cys | |
| ENST00000698799.1:c.157C>T | ENSP00000513942.1:p.Arg53Cys | |
| ENST00000698800.1:c.157C>T | ENSP00000513943.1:p.Arg53Cys | |
| ENST00000698830.1:c.157C>T | ENSP00000513967.1:p.Arg53Cys | |
| ENST00000348459.10:c.157C>T MANE Select | ENSP00000239027.7:p.Arg53Cys | |
| ENST00000239026.10:c.-40+3133C>T | ENSP00000239026.7:n.-40+3133C>T | |
| ENST00000348459.9:c.157C>T | ENSP00000239027.7:p.Arg53Cys | |
| ENST00000371332.8:c.-17+3133C>T | ENSP00000360383.5:n.-17+3133C>T | |
| ENST00000394036.5:c.157C>T | ENSP00000377601.2:p.Arg53Cys | |
| ENST00000394045.5:c.157C>T | ENSP00000377609.1:p.Arg53Cys | |
| ENST00000419900.5:c.109C>T | ENSP00000409945.1:p.Arg37Cys | |
| ENST00000462057.2:n.6C>T | ||
| ENST00000630929.2:c.157C>T | ENSP00000485823.1:p.Arg53Cys | |
| NM_001289067.1:c.157C>T | NP_001275996.1:p.Arg53Cys | |
| NM_001289068.1:c.109C>T | NP_001275997.1:p.Arg37Cys | |
| NM_001289069.1:c.157C>T | NP_001275998.1:p.Arg53Cys | |
| NM_001289070.1:c.157C>T | NP_001275999.1:p.Arg53Cys | |
| NM_001289071.1:c.-260C>T | NP_001276000.1:n.-260C>T | |
| NM_001289072.1:c.157C>T | NP_001276001.1:p.Arg53Cys | |
| NM_001289073.1:c.-193C>T | NP_001276002.1:n.-193C>T | |
| NM_001289074.1:c.-846C>T | NP_001276003.1:n.-846C>T | |
| NM_001289075.1:c.-865C>T | NP_001276004.1:n.-865C>T | |
| NM_018063.4:c.157C>T | NP_060533.2:p.Arg53Cys | |
| XM_024447968.1:c.157C>T | XP_024303736.1:p.Arg53Cys | |
| NM_018063.5:c.157C>T MANE Select | NP_060533.2:p.Arg53Cys | |
| NM_001289068.2:c.109C>T | NP_001275997.1:p.Arg37Cys | |
| NM_001289069.2:c.157C>T | NP_001275998.1:p.Arg53Cys | |
| NM_001289071.2:c.-260C>T | NP_001276000.1:n.-260C>T | |
| NM_001289072.2:c.157C>T | NP_001276001.1:p.Arg53Cys | |
| NM_001289073.2:c.-193C>T | NP_001276002.1:n.-193C>T | |
| NM_001289074.2:c.-846C>T | NP_001276003.1:n.-846C>T | |
| NM_001289075.2:c.-865C>T | NP_001276004.1:n.-865C>T | |
| NM_001289067.2:c.157C>T | NP_001275996.1:p.Arg53Cys | |
| NM_001289070.2:c.157C>T | NP_001275999.1:p.Arg53Cys |