Linked Data
ClinVar Variation Id:
189201
dbSNP Id:
rs143441644
ExAC:
9:131095844 C / T
gnomAD v2:
9-131095844-C-T
gnomAD v3:
9-128333565-C-T
gnomAD v4:
9-128333565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128333565C>T , CM000671.2:g.128333565C>T | GRCh38 |
| NC_000009.11:g.131095844C>T , CM000671.1:g.131095844C>T | GRCh37 |
| NC_000009.10:g.130135665C>T | NCBI36 |
| NG_042101.1:g.16058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.718C>T MANE Select | ENSP00000300452.3:p.Arg240Cys | |
| ENST00000300452.7:c.718C>T | ENSP00000300452.3:p.Arg240Cys | |
| ENST00000461102.1:n.2624C>T | ||
| NM_001305942.1:c.*94C>T | NP_001292871.1:n.*94C>T | |
| NM_016035.3:c.718C>T | NP_057119.2:p.Arg240Cys | |
| NM_016035.4:c.718C>T | NP_057119.2:p.Arg240Cys | |
| XR_929805.1:n.934C>T | ||
| XR_001746316.2:n.971C>T | ||
| XR_929805.3:n.934C>T | ||
| NM_016035.5:c.718C>T MANE Select | NP_057119.3:p.Arg240Cys | |
| NM_001305942.2:c.*94C>T | NP_001292871.2:n.*94C>T |