Linked Data
ClinVar Variation Id:
2470781
ClinVar RCV Id:
RCV004257275
dbSNP Id:
rs1296691386
gnomAD v2:
1-36026194-C-T
gnomAD v3:
1-35560593-C-T
gnomAD v4:
1-35560593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35560593C>T , CM000663.2:g.35560593C>T | GRCh38 |
| NC_000001.10:g.36026194C>T , CM000663.1:g.36026194C>T | GRCh37 |
| NC_000001.9:g.35798781C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.442C>T MANE Select | ENSP00000362340.2:p.Arg148Cys | |
| ENST00000356090.8:c.442C>T | ENSP00000348394.4:p.Arg148Cys | |
| ENST00000373243.6:c.442C>T | ENSP00000362340.2:p.Arg148Cys | |
| ENST00000373253.7:c.391C>T | ENSP00000362350.3:p.Arg131Cys | |
| ENST00000437806.1:c.391C>T | ENSP00000406511.1:p.Arg131Cys | |
| ENST00000459931.1:n.791C>T | ||
| NM_001014839.1:c.442C>T | NP_001014839.1:p.Arg148Cys | |
| NM_001014841.1:c.391C>T | NP_001014841.1:p.Arg131Cys | |
| NM_014284.2:c.442C>T | NP_055099.1:p.Arg148Cys | |
| NM_014284.3:c.442C>T MANE Select | NP_055099.1:p.Arg148Cys | |
| NM_001014839.2:c.442C>T | NP_001014839.1:p.Arg148Cys | |
| NM_001014841.2:c.391C>T | NP_001014841.1:p.Arg131Cys |