Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74044294C>A , CM000677.2:g.74044294C>A | GRCh38 |
| NC_000015.9:g.74336635C>A , CM000677.1:g.74336635C>A | GRCh37 |
| NC_000015.8:g.72123688C>A | NCBI36 |
| NG_029036.1:g.54622C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033238.3:c.1935C>A MANE Select | NP_150241.2:p.Phe645Leu |
| ENST00000268058.8:c.1935C>A MANE Select | ENSP00000268058.3:p.Phe645Leu |
| NM_033238.2:c.1935C>A | NP_150241.2:p.Phe645Leu |
| ENST00000268058.7:c.1935C>A | ENSP00000268058.3:p.Phe645Leu |
| ENST00000565898.5:c.1791C>A | ENSP00000455838.1:p.Phe597Leu |