Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508741T= , CM000672.2:g.122508741T= | GRCh38 |
| NC_000010.10:g.124268257T= , CM000672.1:g.124268257T= | GRCh37 |
| NC_000010.9:g.124258247T= | NCBI36 |
| NG_011554.1:g.52217T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002775.5:c.1091T= MANE Select | NP_002766.1:p.Leu364= |
| ENST00000368984.8:c.1091T= MANE Select | ENSP00000357980.3:p.Leu364= |
| NM_002775.4:c.1091T= | NP_002766.1:p.Leu364= |
| ENST00000368984.7:c.1091T= | ENSP00000357980.3:p.Leu364= |
| ENST00000420892.1:c.314T= | ENSP00000412676.1:p.Leu105= |
| ENST00000648167.1:c.773T= | ENSP00000498033.1:p.Leu258= |