Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35575913G>A , CM000679.2:g.35575913G>A | GRCh38 |
| NC_000017.10:g.33902932G>A , CM000679.1:g.33902932G>A | GRCh37 |
| NC_000017.9:g.30927045G>A | NCBI36 |
| NG_008447.1:g.7725C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.949C>T MANE Select | NP_000277.1:p.Leu317Phe |
| ENST00000225873.9:c.949C>T MANE Select | ENSP00000225873.3:p.Leu317Phe |
| NM_000286.2:c.949C>T | NP_000277.1:p.Leu317Phe |
| ENST00000225873.8:c.949C>T | ENSP00000225873.3:p.Leu317Phe |
| ENST00000586663.1:c.949C>T | ENSP00000466894.1:p.Leu317Phe |
| ENST00000586663.2:c.949C>T | ENSP00000466894.2:p.Leu317Phe |
| ENST00000613219.4:c.949C>T | ENSP00000482609.1:p.Leu317Phe |