Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506839T>A , CM000672.2:g.122506839T>A | GRCh38 |
| NC_000010.10:g.124266355T>A , CM000672.1:g.124266355T>A | GRCh37 |
| NC_000010.9:g.124256345T>A | NCBI36 |
| NG_011554.1:g.50315T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.926T>A MANE Select | ENSP00000357980.3:p.Leu309His | |
| ENST00000648167.1:c.608T>A | ENSP00000498033.1:p.Leu203His | |
| ENST00000368984.7:c.926T>A | ENSP00000357980.3:p.Leu309His | |
| ENST00000420892.1:c.149T>A | ENSP00000412676.1:p.Leu50His | |
| NM_002775.4:c.926T>A | NP_002766.1:p.Leu309His | |
| NM_002775.5:c.926T>A MANE Select | NP_002766.1:p.Leu309His |