Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172920T= , CM000678.2:g.172920T= | GRCh38 |
| NC_000016.9:g.222919T= , CM000678.1:g.222919T= | GRCh37 |
| NC_000016.8:g.162919T= | NCBI36 |
| NG_000006.1:g.33783T= | |
| NG_059186.1:g.1270T= | |
| NG_059271.1:g.5074T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.8T= MANE Select | NP_000508.1:p.Leu3= |
| ENST00000251595.11:c.8T= MANE Select | ENSP00000251595.6:p.Leu3= |
| NM_000517.4:c.8T= | NP_000508.1:p.Leu3= |
| ENST00000251595.10:c.8T= | ENSP00000251595.6:p.Leu3= |
| ENST00000397806.1:c.-40T= | ENSP00000380908.1:n.-40T= |
| ENST00000482565.1:n.27T= |