Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461930T>G , CM000672.2:g.122461930T>G | GRCh38 |
| NC_000010.10:g.124221446T>G , CM000672.1:g.124221446T>G | GRCh37 |
| NC_000010.9:g.124211436T>G | NCBI36 |
| NG_011554.1:g.5406T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.278T>G MANE Select | ENSP00000357980.3:p.Phe93Cys | |
| ENST00000648167.1:c.154+3221T>G | ENSP00000498033.1:n.154+3221T>G | |
| ENST00000368984.7:c.278T>G | ENSP00000357980.3:p.Phe93Cys | |
| NM_002775.4:c.278T>G | NP_002766.1:p.Phe93Cys | |
| NM_002775.5:c.278T>G MANE Select | NP_002766.1:p.Phe93Cys |