Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124865622C>A , CM000673.2:g.124865622C>A | GRCh38 |
| NC_000011.9:g.124735518C>A , CM000673.1:g.124735518C>A | GRCh37 |
| NC_000011.8:g.124240728C>A | NCBI36 |
| NG_016214.1:g.5214C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.45C>A MANE Select | ENSP00000380903.1:p.Phe15Leu | |
| ENST00000397801.5:c.45C>A | ENSP00000380903.1:p.Phe15Leu | |
| NM_022370.3:c.45C>A | NP_071765.2:p.Phe15Leu | |
| XM_011542953.1:c.522C>A | XP_011541255.1:p.Phe174Leu | |
| NM_022370.4:c.45C>A MANE Select | NP_071765.2:p.Phe15Leu |