Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350269C>A , CM000672.2:g.47350269C>A | GRCh38 |
| NC_000010.10:g.48389093G>T , CM000672.1:g.48389093G>T | GRCh37 |
| NC_000010.9:g.48009099G>T | NCBI36 |
| NG_029718.1:g.6899C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1785C>A MANE Select | ENSP00000463151.1:p.Val595= | |
| ENST00000584701.1:c.1785C>A | ENSP00000463151.1:p.Val595= | |
| NM_002900.2:c.1785C>A | NP_002891.1:p.Val595= | |
| NM_002900.3:c.1785C>A MANE Select | NP_002891.1:p.Val595= |