Linked Data
ClinVar Variation Id:
7593
dbSNP Id:
rs121909133
ExAC:
1:16378219 C / T
gnomAD v2:
1-16378219-C-T
gnomAD v3:
1-16051724-C-T
gnomAD v4:
1-16051724-C-T
PubMed:
PMID:9326936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16051724C>T , CM000663.2:g.16051724C>T | GRCh38 |
| NC_000001.10:g.16378219C>T , CM000663.1:g.16378219C>T | GRCh37 |
| NC_000001.9:g.16250806C>T | NCBI36 |
| NG_013079.1:g.12973C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.1312C>T | ENSP00000507062.1:p.Arg438Cys | |
| ENST00000682793.1:c.1312C>T | ENSP00000506910.1:p.Arg438Cys | |
| ENST00000682838.1:c.*1054C>T | ENSP00000507652.1:n.*1054C>T | |
| ENST00000683578.1:c.1312C>T | ENSP00000507430.1:p.Arg438Cys | |
| ENST00000683606.1:n.927C>T | ||
| ENST00000683661.1:n.2847C>T | ||
| ENST00000684324.1:c.1312C>T | ENSP00000507937.1:p.Arg438Cys | |
| ENST00000684545.1:c.1312C>T | ENSP00000506733.1:p.Arg438Cys | |
| ENST00000684624.1:n.689C>T | ||
| ENST00000684714.1:c.1312C>T | ENSP00000506861.1:p.Arg438Cys | |
| ENST00000684731.1:n.773C>T | ||
| ENST00000375679.9:c.1312C>T MANE Select | ENSP00000364831.5:p.Arg438Cys | |
| ENST00000375667.7:c.805C>T | ENSP00000364819.3:p.Arg269Cys | |
| ENST00000375679.8:c.1312C>T | ENSP00000364831.4:p.Arg438Cys | |
| ENST00000619181.4:c.931C>T | ENSP00000483866.1:p.Arg311Cys | |
| NM_000085.4:c.1312C>T | NP_000076.2:p.Arg438Cys | |
| NM_001165945.2:c.805C>T | NP_001159417.2:p.Arg269Cys | |
| XM_011540619.1:c.1153C>T | XP_011538921.1:p.Arg385Cys | |
| XM_011540620.1:c.1312C>T | XP_011538922.1:p.Arg438Cys | |
| XM_011540621.1:c.661C>T | XP_011538923.1:p.Arg221Cys | |
| NM_000085.5:c.1312C>T MANE Select | NP_000076.2:p.Arg438Cys |