Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640432C>A , CM000673.2:g.640432C>A | GRCh38 |
| NC_000011.9:g.640432C>A , CM000673.1:g.640432C>A | GRCh37 |
| NC_000011.8:g.630432C>A | NCBI36 |
| NG_021241.1:g.8128C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.1089C>A MANE Select | NP_000788.2:p.Phe363Leu |
| ENST00000176183.6:c.1089C>A MANE Select | ENSP00000176183.5:p.Phe363Leu |
| NM_000797.3:c.1089C>A | NP_000788.2:p.Phe363Leu |
| ENST00000176183.5:c.1089C>A | ENSP00000176183.5:p.Phe363Leu |