Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506833T>A , CM000672.2:g.122506833T>A | GRCh38 |
| NC_000010.10:g.124266349T>A , CM000672.1:g.124266349T>A | GRCh37 |
| NC_000010.9:g.124256339T>A | NCBI36 |
| NG_011554.1:g.50309T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.920T>A MANE Select | ENSP00000357980.3:p.Leu307Gln | |
| ENST00000648167.1:c.602T>A | ENSP00000498033.1:p.Leu201Gln | |
| ENST00000368984.7:c.920T>A | ENSP00000357980.3:p.Leu307Gln | |
| ENST00000420892.1:c.143T>A | ENSP00000412676.1:p.Leu48Gln | |
| NM_002775.4:c.920T>A | NP_002766.1:p.Leu307Gln | |
| NM_002775.5:c.920T>A MANE Select | NP_002766.1:p.Leu307Gln |