Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508683T>G , CM000672.2:g.122508683T>G | GRCh38 |
| NC_000010.10:g.124268199T>G , CM000672.1:g.124268199T>G | GRCh37 |
| NC_000010.9:g.124258189T>G | NCBI36 |
| NG_011554.1:g.52159T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1033T>G MANE Select | ENSP00000357980.3:p.Leu345Val | |
| ENST00000648167.1:c.715T>G | ENSP00000498033.1:p.Leu239Val | |
| ENST00000368984.7:c.1033T>G | ENSP00000357980.3:p.Leu345Val | |
| ENST00000420892.1:c.256T>G | ENSP00000412676.1:p.Leu86Val | |
| NM_002775.4:c.1033T>G | NP_002766.1:p.Leu345Val | |
| NM_002775.5:c.1033T>G MANE Select | NP_002766.1:p.Leu345Val |