Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172930C>G , CM000678.2:g.172930C>G | GRCh38 |
| NC_000016.9:g.222929C>G , CM000678.1:g.222929C>G | GRCh37 |
| NC_000016.8:g.162929C>G | NCBI36 |
| NG_000006.1:g.33793C>G | |
| NG_059186.1:g.1280C>G | |
| NG_059271.1:g.5084C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.18C>G MANE Select | NP_000508.1:p.Ala6= |
| ENST00000251595.11:c.18C>G MANE Select | ENSP00000251595.6:p.Ala6= |
| NM_000517.4:c.18C>G | NP_000508.1:p.Ala6= |
| ENST00000251595.10:c.18C>G | ENSP00000251595.6:p.Ala6= |
| ENST00000397806.1:c.-30C>G | ENSP00000380908.1:n.-30C>G |
| ENST00000482565.1:n.37C>G |