Linked Data
ClinVar Variation Id:
161636
dbSNP Id:
rs193920947
ExAC:
20:60910080 G / A
gnomAD v2:
20-60910080-G-A
gnomAD v3:
20-62335024-G-A
gnomAD v4:
20-62335024-G-A
COSMIC:
COSM1178725
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62335024G>A , CM000682.2:g.62335024G>A | GRCh38 |
| NC_000020.10:g.60910080G>A , CM000682.1:g.60910080G>A | GRCh37 |
| NC_000020.9:g.60343475G>A | NCBI36 |
| NG_050626.1:g.37297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252999.7:c.2479C>T MANE Select | ENSP00000252999.3:p.Arg827Cys | |
| ENST00000474128.1:c.435C>T | ENSP00000420069.1:n.435C>T | |
| NM_005560.4:c.2479C>T | NP_005551.3:p.Arg827Cys | |
| XM_006723796.2:c.2479C>T | XP_006723859.1:p.Arg827Cys | |
| XM_006723798.2:c.2479C>T | XP_006723861.1:p.Arg827Cys | |
| XM_011528818.1:c.2341C>T | XP_011527120.1:p.Arg781Cys | |
| XM_011528819.1:c.2206C>T | XP_011527121.1:p.Arg736Cys | |
| XR_936532.1:n.2551C>T | ||
| XM_006723796.3:c.2479C>T | XP_006723859.1:p.Arg827Cys | |
| XM_006723798.3:c.2479C>T | XP_006723861.1:p.Arg827Cys | |
| XM_011528818.2:c.2341C>T | XP_011527120.1:p.Arg781Cys | |
| XM_011528819.2:c.2206C>T | XP_011527121.1:p.Arg736Cys | |
| XR_936532.2:n.2550C>T | ||
| NM_005560.5:c.2479C>T | NP_005551.3:p.Arg827Cys | |
| NM_005560.6:c.2479C>T MANE Select | NP_005551.3:p.Arg827Cys |