Linked Data
ClinVar Variation Id:
192394
ClinVar RCV Id:
RCV000173022
dbSNP Id:
rs876657403
gnomAD v4:
1-225921254-G-A
PubMed:
PMID:25865492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225921254G>A , CM000663.2:g.225921254G>A | GRCh38 |
| NC_000001.10:g.226108954G>A , CM000663.1:g.226108954G>A | GRCh37 |
| NC_000001.9:g.224175577G>A | NCBI36 |
| NG_044963.1:g.8087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343818.11:c.751C>T MANE Select | ENSP00000342502.6:p.Arg251Cys | |
| ENST00000343818.10:c.751C>T | ENSP00000342502.6:p.Arg251Cys | |
| ENST00000432920.2:c.529C>T | ENSP00000414068.2:p.Arg177Cys | |
| ENST00000446534.1:n.1309C>T | ||
| ENST00000466127.1:n.468C>T | ||
| ENST00000478402.5:n.2360C>T | ||
| ENST00000612039.4:c.529C>T | ENSP00000478165.1:p.Arg177Cys | |
| ENST00000612651.4:c.748C>T | ENSP00000482845.1:p.Arg250Cys | |
| NM_001271681.1:c.529C>T | NP_001258610.1:p.Arg177Cys | |
| NM_013328.3:c.751C>T | NP_037460.2:p.Arg251Cys | |
| NM_013328.4:c.751C>T MANE Select | NP_037460.2:p.Arg251Cys | |
| NM_001271681.2:c.529C>T | NP_001258610.1:p.Arg177Cys |