Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508740C>A , CM000672.2:g.122508740C>A | GRCh38 |
| NC_000010.10:g.124268256C>A , CM000672.1:g.124268256C>A | GRCh37 |
| NC_000010.9:g.124258246C>A | NCBI36 |
| NG_011554.1:g.52216C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1090C>A MANE Select | ENSP00000357980.3:p.Leu364Ile | |
| ENST00000648167.1:c.772C>A | ENSP00000498033.1:p.Leu258Ile | |
| ENST00000368984.7:c.1090C>A | ENSP00000357980.3:p.Leu364Ile | |
| ENST00000420892.1:c.313C>A | ENSP00000412676.1:p.Leu105Ile | |
| NM_002775.4:c.1090C>A | NP_002766.1:p.Leu364Ile | |
| NM_002775.5:c.1090C>A MANE Select | NP_002766.1:p.Leu364Ile |