Linked Data
ClinVar Variation Id:
18420
dbSNP Id:
rs267606821
ExAC:
1:213032368 T / C
gnomAD v2:
1-213032368-T-C
gnomAD v3:
1-212859026-T-C
gnomAD v4:
1-212859026-T-C
PubMed:
PMID:21070897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212859026T>C , CM000663.2:g.212859026T>C | GRCh38 |
| NC_000001.10:g.213032368T>C , CM000663.1:g.213032368T>C | GRCh37 |
| NC_000001.9:g.211098991T>C | NCBI36 |
| NG_028131.1:g.5772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.574T>C MANE Select | ENSP00000355938.4:p.Cys192Arg | |
| ENST00000366971.8:c.574T>C | ENSP00000355938.4:p.Cys192Arg | |
| ENST00000419102.1:c.111T>C | ||
| NM_014053.3:c.574T>C | NP_054772.1:p.Cys192Arg | |
| XM_011509446.1:c.574T>C | XP_011507748.1:p.Cys192Arg | |
| XM_011509447.1:c.574T>C | XP_011507749.1:p.Cys192Arg | |
| XM_011509448.1:c.574T>C | XP_011507750.1:p.Cys192Arg | |
| XR_247024.1:n.748T>C | ||
| XR_426771.1:n.748T>C | ||
| XR_426772.2:n.748T>C | ||
| XR_921769.1:n.748T>C | ||
| XM_011509446.3:c.574T>C | XP_011507748.1:p.Cys192Arg | |
| XM_011509447.2:c.574T>C | XP_011507749.1:p.Cys192Arg | |
| XR_247024.3:n.748T>C | ||
| XR_426772.3:n.748T>C | ||
| NM_014053.4:c.574T>C MANE Select | NP_054772.1:p.Cys192Arg |