Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506879C>G , CM000672.2:g.122506879C>G | GRCh38 |
| NC_000010.10:g.124266395C>G , CM000672.1:g.124266395C>G | GRCh37 |
| NC_000010.9:g.124256385C>G | NCBI36 |
| NG_011554.1:g.50355C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.966C>G MANE Select | ENSP00000357980.3:p.Ile322Met | |
| ENST00000648167.1:c.648C>G | ENSP00000498033.1:p.Ile216Met | |
| ENST00000368984.7:c.966C>G | ENSP00000357980.3:p.Ile322Met | |
| ENST00000420892.1:c.189C>G | ENSP00000412676.1:p.Ile63Met | |
| NM_002775.4:c.966C>G | NP_002766.1:p.Ile322Met | |
| NM_002775.5:c.966C>G MANE Select | NP_002766.1:p.Ile322Met |