Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883251G>A , CM000676.2:g.100883251G>A | GRCh38 |
| NC_000014.8:g.101349588G>A , CM000676.1:g.101349588G>A | GRCh37 |
| NC_000014.7:g.100419341G>A | NCBI36 |
| NG_045001.1:g.6597C>T | |
| NG_045000.5:g.51983G>A | |
| NG_045000.6:g.51983G>A | |
| NG_045001.2:g.25472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1538C>T MANE Select | ENSP00000497482.1:p.Ala513Val | |
| ENST00000534062.1:c.1538C>T | ENSP00000435342.1:p.Ala513Val | |
| NM_001134888.2:c.1538C>T | NP_001128360.1:p.Ala513Val | |
| NM_001134888.3:c.1538C>T MANE Select | NP_001128360.1:p.Ala513Val |