Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100667324T>A , CM000685.2:g.100667324T>A | GRCh38 |
| NC_000023.10:g.99922321T>A , CM000685.1:g.99922321T>A | GRCh37 |
| NC_000023.9:g.99808977T>A | NCBI36 |
| NG_021337.1:g.28159T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1012T>A MANE Select | ENSP00000362095.3:p.Phe338Ile | |
| ENST00000638920.1:n.1015T>A | ||
| ENST00000640282.1:c.58T>A | ENSP00000491188.1:p.Phe20Ile | |
| ENST00000677630.1:n.946T>A | ||
| ENST00000679590.1:n.1045T>A | ||
| ENST00000373004.3:c.1012T>A | ENSP00000362095.3:p.Phe338Ile | |
| NM_014467.2:c.1012T>A | NP_055282.1:p.Phe338Ile | |
| XM_005262121.2:c.1012T>A | XP_005262178.1:p.Phe338Ile | |
| NM_014467.3:c.1012T>A MANE Select | NP_055282.1:p.Phe338Ile |