Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80476374A>T , CM000679.2:g.80476374A>T | GRCh38 |
| NC_000017.10:g.78450174A>T , CM000679.1:g.78450174A>T | GRCh37 |
| NC_000017.9:g.76064769A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306773.5:c.73T>A MANE Select | ENSP00000307549.4:p.Phe25Ile | |
| ENST00000306773.4:c.73T>A | ENSP00000307549.4:p.Phe25Ile | |
| ENST00000575212.1:n.234-656T>A | ||
| NM_002522.3:c.73T>A | NP_002513.2:p.Phe25Ile | |
| NM_002522.4:c.73T>A MANE Select | NP_002513.2:p.Phe25Ile |