Linked Data
dbSNP Id:
rs2133905384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461992A>T , CM000672.2:g.122461992A>T | GRCh38 |
| NC_000010.10:g.124221508A>T , CM000672.1:g.124221508A>T | GRCh37 |
| NC_000010.9:g.124211498A>T | NCBI36 |
| NG_011554.1:g.5468A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.340A>T MANE Select | ENSP00000357980.3:p.Ser114Cys | |
| ENST00000648167.1:c.154+3283A>T | ENSP00000498033.1:n.154+3283A>T | |
| ENST00000368984.7:c.340A>T | ENSP00000357980.3:p.Ser114Cys | |
| NM_002775.4:c.340A>T | NP_002766.1:p.Ser114Cys | |
| NM_002775.5:c.340A>T MANE Select | NP_002766.1:p.Ser114Cys |