Linked Data
ClinVar Variation Id:
714468
ClinVar RCV Id:
RCV000886776
dbSNP Id:
rs142812849
ExAC:
1:230822828 C / T
gnomAD v2:
1-230822828-C-T
gnomAD v3:
1-230687082-C-T
gnomAD v4:
1-230687082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230687082C>T , CM000663.2:g.230687082C>T | GRCh38 |
| NC_000001.10:g.230822828C>T , CM000663.1:g.230822828C>T | GRCh37 |
| NC_000001.9:g.228889451C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1528C>T MANE Select | ENSP00000355629.4:p.Arg510Cys | |
| ENST00000366668.7:c.1528C>T | ENSP00000355628.3:p.Arg510Cys | |
| ENST00000366669.8:c.1528C>T | ENSP00000355629.4:p.Arg510Cys | |
| ENST00000468893.6:c.*1386C>T | ENSP00000476305.1:n.*1386C>T | |
| ENST00000482012.1:n.418C>T | ||
| ENST00000534989.1:c.1351C>T | ENSP00000440349.1:p.Arg451Cys | |
| NM_001145036.1:c.1528C>T | NP_001138508.1:p.Arg510Cys | |
| NM_007357.2:c.1528C>T | NP_031383.1:p.Arg510Cys | |
| NM_007357.3:c.1528C>T MANE Select | NP_031383.1:p.Arg510Cys | |
| NM_001145036.2:c.1528C>T | NP_001138508.1:p.Arg510Cys |