Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506712C= , CM000672.2:g.122506712C= | GRCh38 |
| NC_000010.10:g.124266228C= , CM000672.1:g.124266228C= | GRCh37 |
| NC_000010.9:g.124256218C= | NCBI36 |
| NG_011554.1:g.50188C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.799C= MANE Select | ENSP00000357980.3:p.Leu267= | |
| ENST00000648167.1:c.481C= | ENSP00000498033.1:p.Leu161= | |
| ENST00000368984.7:c.799C= | ENSP00000357980.3:p.Leu267= | |
| ENST00000420892.1:c.22C= | ENSP00000412676.1:p.Leu8= | |
| NM_002775.4:c.799C= | NP_002766.1:p.Leu267= | |
| NM_002775.5:c.799C= MANE Select | NP_002766.1:p.Leu267= |