Linked Data
ClinVar Variation Id:
192393
ClinVar RCV Id:
RCV000173021
dbSNP Id:
rs372781135
ExAC:
1:226109743 G / A
gnomAD v2:
1-226109743-G-A
gnomAD v3:
1-225922043-G-A
gnomAD v4:
1-225922043-G-A
PubMed:
PMID:25865492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225922043G>A , CM000663.2:g.225922043G>A | GRCh38 |
| NC_000001.10:g.226109743G>A , CM000663.1:g.226109743G>A | GRCh37 |
| NC_000001.9:g.224176366G>A | NCBI36 |
| NG_044963.1:g.7298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343818.11:c.355C>T MANE Select | ENSP00000342502.6:p.Arg119Cys | |
| ENST00000343818.10:c.355C>T | ENSP00000342502.6:p.Arg119Cys | |
| ENST00000432920.2:c.318+161C>T | ENSP00000414068.2:n.318+161C>T | |
| ENST00000446534.1:n.913C>T | ||
| ENST00000472798.2:c.247C>T | ENSP00000480779.1:p.Arg83Cys | |
| ENST00000478402.5:n.1964C>T | ||
| ENST00000489681.5:c.247C>T | ENSP00000482614.1:p.Arg83Cys | |
| ENST00000612039.4:c.318+161C>T | ENSP00000478165.1:n.318+161C>T | |
| ENST00000612651.4:c.352C>T | ENSP00000482845.1:p.Arg118Cys | |
| NM_001271681.1:c.318+161C>T | NP_001258610.1:n.318+161C>T | |
| NM_013328.3:c.355C>T | NP_037460.2:p.Arg119Cys | |
| NM_013328.4:c.355C>T MANE Select | NP_037460.2:p.Arg119Cys | |
| NM_001271681.2:c.318+161C>T | NP_001258610.1:n.318+161C>T |