Linked Data
ClinVar Variation Id:
708
dbSNP Id:
rs118204443
ExAC:
16:88898507 C / A
gnomAD v2:
16-88898507-C-A
gnomAD v3:
16-88832099-C-A
gnomAD v4:
16-88832099-C-A
COSMIC:
COSM6374414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88832099C>A , CM000678.2:g.88832099C>A | GRCh38 |
| NC_000016.9:g.88898507C>A , CM000678.1:g.88898507C>A | GRCh37 |
| NC_000016.8:g.87426008C>A | NCBI36 |
| NG_008667.1:g.29868G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.901G>T MANE Select | ENSP00000268695.5:p.Gly301Cys | |
| ENST00000268695.9:c.901G>T | ENSP00000268695.5:p.Gly301Cys | |
| ENST00000562593.5:n.4310G>T | ||
| ENST00000562931.5:n.489G>T | ||
| ENST00000567525.5:c.582G>T | ENSP00000454484.1:n.582G>T | |
| ENST00000568613.5:c.1020G>T | ENSP00000457921.1:n.1020G>T | |
| NM_000512.4:c.901G>T | NP_000503.1:p.Gly301Cys | |
| XM_005256301.2:c.901G>T | XP_005256358.1:p.Gly301Cys | |
| XM_005256302.1:c.919G>T | XP_005256359.1:p.Gly307Cys | |
| XM_011522982.1:c.919G>T | XP_011521284.1:p.Gly307Cys | |
| XM_011522984.1:c.919G>T | XP_011521286.1:p.Gly307Cys | |
| NM_001323543.1:c.346G>T | NP_001310472.1:p.Gly116Cys | |
| NM_001323544.1:c.919G>T | NP_001310473.1:p.Gly307Cys | |
| XM_005256301.3:c.901G>T | XP_005256358.1:p.Gly301Cys | |
| XM_011522982.2:c.919G>T | XP_011521284.1:p.Gly307Cys | |
| XM_017023111.2:c.919G>T | XP_016878600.1:p.Gly307Cys | |
| XM_017023112.2:c.919G>T | XP_016878601.1:p.Gly307Cys | |
| XM_017023113.1:c.346G>T | XP_016878602.1:p.Gly116Cys | |
| NM_000512.5:c.901G>T MANE Select | NP_000503.1:p.Gly301Cys | |
| NM_001323543.2:c.346G>T | NP_001310472.1:p.Gly116Cys | |
| NM_001323544.2:c.919G>T | NP_001310473.1:p.Gly307Cys |