Linked Data
ClinVar Variation Id:
42194
dbSNP Id:
rs431905509
ExAC:
22:19163735 G / A
gnomAD v2:
22-19163735-G-A
gnomAD v3:
22-19176222-G-A
gnomAD v4:
22-19176222-G-A
PubMed:
PMID:23561848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176222G>A , CM000684.2:g.19176222G>A | GRCh38 |
| NC_000022.10:g.19163735G>A , CM000684.1:g.19163735G>A | GRCh37 |
| NC_000022.9:g.17543735G>A | NCBI36 |
| NG_033863.1:g.7642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.844C>T MANE Select | ENSP00000215882.5:p.Arg282Cys | |
| ENST00000215882.9:c.844C>T | ENSP00000215882.5:p.Arg282Cys | |
| ENST00000451283.5:c.535C>T | ENSP00000401480.1:p.Arg179Cys | |
| ENST00000470922.5:n.986C>T | ||
| NM_001256534.1:c.865C>T | NP_001243463.1:p.Arg289Cys | |
| NM_001287387.1:c.535C>T | NP_001274316.1:p.Arg179Cys | |
| NM_005984.4:c.844C>T | NP_005975.1:p.Arg282Cys | |
| NR_046298.2:n.895C>T | ||
| NM_005984.5:c.844C>T MANE Select | NP_005975.1:p.Arg282Cys | |
| NM_001256534.2:c.865C>T | NP_001243463.1:p.Arg289Cys | |
| NM_001287387.2:c.535C>T | NP_001274316.1:p.Arg179Cys | |
| NR_046298.3:n.768C>T |