Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78329063T>A , CM000671.2:g.78329063T>A | GRCh38 |
| NC_000009.11:g.80943979T>A , CM000671.1:g.80943979T>A | GRCh37 |
| NC_000009.10:g.80133799T>A | NCBI36 |
| NG_012165.1:g.36921T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058179.4:c.1090T>A MANE Select | NP_478059.1:p.Phe364Ile |
| ENST00000376588.4:c.1090T>A MANE Select | ENSP00000365773.3:p.Phe364Ile |
| NM_021154.4:c.952T>A | NP_066977.1:p.Phe318Ile |
| NM_021154.5:c.952T>A | NP_066977.1:p.Phe318Ile |
| NM_058179.3:c.1090T>A | NP_478059.1:p.Phe364Ile |
| ENST00000347159.6:c.952T>A | ENSP00000317606.2:p.Phe318Ile |
| ENST00000376588.3:c.1090T>A | ENSP00000365773.3:p.Phe364Ile |