Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172920T>G , CM000678.2:g.172920T>G | GRCh38 |
| NC_000016.9:g.222919T>G , CM000678.1:g.222919T>G | GRCh37 |
| NC_000016.8:g.162919T>G | NCBI36 |
| NG_000006.1:g.33783T>G | |
| NG_059186.1:g.1270T>G | |
| NG_059271.1:g.5074T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.8T>G MANE Select | ENSP00000251595.6:p.Leu3Arg | |
| ENST00000251595.10:c.8T>G | ENSP00000251595.6:p.Leu3Arg | |
| ENST00000397806.1:c.-40T>G | ENSP00000380908.1:n.-40T>G | |
| ENST00000482565.1:n.27T>G | ||
| NM_000517.4:c.8T>G | NP_000508.1:p.Leu3Arg | |
| NM_000517.6:c.8T>G MANE Select | NP_000508.1:p.Leu3Arg |