Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576135C>T , CM000679.2:g.35576135C>T | GRCh38 |
| NC_000017.10:g.33903154C>T , CM000679.1:g.33903154C>T | GRCh37 |
| NC_000017.9:g.30927267C>T | NCBI36 |
| NG_008447.1:g.7503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.727G>A MANE Select | ENSP00000225873.3:p.Val243Ile | |
| ENST00000586663.2:c.727G>A | ENSP00000466894.2:p.Val243Ile | |
| ENST00000225873.8:c.727G>A | ENSP00000225873.3:p.Val243Ile | |
| ENST00000586663.1:c.727G>A | ENSP00000466894.1:p.Val243Ile | |
| ENST00000613219.4:c.727G>A | ENSP00000482609.1:p.Val243Ile | |
| NM_000286.2:c.727G>A | NP_000277.1:p.Val243Ile | |
| NM_000286.3:c.727G>A MANE Select | NP_000277.1:p.Val243Ile |