Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173159T>G , CM000678.2:g.173159T>G | GRCh38 |
| NC_000016.9:g.223158T>G , CM000678.1:g.223158T>G | GRCh37 |
| NC_000016.8:g.163158T>G | NCBI36 |
| NG_000006.1:g.34022T>G | |
| NG_059186.1:g.1509T>G | |
| NG_059271.1:g.5313T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.130T>G MANE Select | ENSP00000251595.6:p.Phe44Val | |
| ENST00000251595.10:c.130T>G | ENSP00000251595.6:p.Phe44Val | |
| ENST00000397806.1:c.34T>G | ENSP00000380908.1:p.Phe12Val | |
| ENST00000482565.1:n.266T>G | ||
| ENST00000484216.1:n.99T>G | ||
| NM_000517.4:c.130T>G | NP_000508.1:p.Phe44Val | |
| NM_000517.6:c.130T>G MANE Select | NP_000508.1:p.Phe44Val |