Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66558137C>A , CM000673.2:g.66558137C>A | GRCh38 |
| NC_000011.9:g.66325608C>A , CM000673.1:g.66325608C>A | GRCh37 |
| NC_000011.8:g.66082184C>A | NCBI36 |
| NG_013304.2:g.16218C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001104.4:c.1239C>A MANE Select | NP_001095.2:p.Phe413Leu |
| ENST00000513398.2:c.1239C>A MANE Select | ENSP00000426797.1:p.Phe413Leu |
| NM_001104.3:c.1239C>A | NP_001095.2:p.Phe413Leu |
| NM_001258371.2:c.1368C>A | NP_001245300.2:p.Phe456Leu |
| NM_001258371.3:c.1368C>A | NP_001245300.2:p.Phe456Leu |
| ENST00000502692.5:c.1368C>A | ENSP00000422007.1:p.Phe456Leu |
| ENST00000513398.1:c.1239C>A | ENSP00000426797.1:p.Phe413Leu |