Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508738T>G , CM000672.2:g.122508738T>G | GRCh38 |
| NC_000010.10:g.124268254T>G , CM000672.1:g.124268254T>G | GRCh37 |
| NC_000010.9:g.124258244T>G | NCBI36 |
| NG_011554.1:g.52214T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1088T>G MANE Select | ENSP00000357980.3:p.Phe363Cys | |
| ENST00000648167.1:c.770T>G | ENSP00000498033.1:p.Phe257Cys | |
| ENST00000368984.7:c.1088T>G | ENSP00000357980.3:p.Phe363Cys | |
| ENST00000420892.1:c.311T>G | ENSP00000412676.1:p.Phe104Cys | |
| NM_002775.4:c.1088T>G | NP_002766.1:p.Phe363Cys | |
| NM_002775.5:c.1088T>G MANE Select | NP_002766.1:p.Phe363Cys |