Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231330G>T , CM000672.2:g.68231330G>T | GRCh38 |
| NC_000010.10:g.69991087G>T , CM000672.1:g.69991087G>T | GRCh37 |
| NC_000010.9:g.69661093G>T | NCBI36 |
| NG_031934.1:g.5784C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.348C>A MANE Select | ENSP00000362777.3:p.Phe116Leu | |
| ENST00000373673.4:c.348C>A | ENSP00000362777.3:p.Phe116Leu | |
| NM_145178.3:c.348C>A | NP_660161.1:p.Phe116Leu | |
| NM_145178.4:c.348C>A MANE Select | NP_660161.1:p.Phe116Leu |