Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74044292T>G , CM000677.2:g.74044292T>G | GRCh38 |
| NC_000015.9:g.74336633T>G , CM000677.1:g.74336633T>G | GRCh37 |
| NC_000015.8:g.72123686T>G | NCBI36 |
| NG_029036.1:g.54620T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033238.3:c.1933T>G MANE Select | NP_150241.2:p.Phe645Val |
| ENST00000268058.8:c.1933T>G MANE Select | ENSP00000268058.3:p.Phe645Val |
| NM_033238.2:c.1933T>G | NP_150241.2:p.Phe645Val |
| ENST00000268058.7:c.1933T>G | ENSP00000268058.3:p.Phe645Val |
| ENST00000565898.5:c.1789T>G | ENSP00000455838.1:p.Phe597Val |