Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420562A>T , CM000666.2:g.99420562A>T | GRCh38 |
| NC_000004.11:g.100341719A>T , CM000666.1:g.100341719A>T | GRCh37 |
| NC_000004.10:g.100560742A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.796T>A MANE Select | ENSP00000414254.2:p.Phe266Ile | |
| ENST00000209665.8:c.832T>A | ENSP00000209665.4:p.Phe278Ile | |
| ENST00000437033.6:c.796T>A | ENSP00000414254.2:p.Phe266Ile | |
| ENST00000476959.5:c.856T>A | ENSP00000420269.1:p.Phe286Ile | |
| ENST00000482593.5:c.625T>A | ENSP00000420613.1:p.Phe209Ile | |
| NM_000673.4:c.832T>A | NP_000664.2:p.Phe278Ile | |
| NM_001166504.1:c.856T>A | NP_001159976.1:p.Phe286Ile | |
| NM_000673.7:c.796T>A MANE Select | NP_000664.3:p.Phe266Ile | |
| NM_001166504.2:c.856T>A | NP_001159976.1:p.Phe286Ile |