Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74044292T>C , CM000677.2:g.74044292T>C | GRCh38 |
| NC_000015.9:g.74336633T>C , CM000677.1:g.74336633T>C | GRCh37 |
| NC_000015.8:g.72123686T>C | NCBI36 |
| NG_029036.1:g.54620T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268058.8:c.1933T>C MANE Select | ENSP00000268058.3:p.Phe645Leu | |
| ENST00000268058.7:c.1933T>C | ENSP00000268058.3:p.Phe645Leu | |
| ENST00000565898.5:c.1789T>C | ENSP00000455838.1:p.Phe597Leu | |
| NM_033238.2:c.1933T>C | NP_150241.2:p.Phe645Leu | |
| NM_033238.3:c.1933T>C MANE Select | NP_150241.2:p.Phe645Leu |