Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172975C>A , CM000678.2:g.172975C>A | GRCh38 |
| NC_000016.9:g.222974C>A , CM000678.1:g.222974C>A | GRCh37 |
| NC_000016.8:g.162974C>A | NCBI36 |
| NG_000006.1:g.33838C>A | |
| NG_059186.1:g.1325C>A | |
| NG_059271.1:g.5129C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.63C>A MANE Select | NP_000508.1:p.His21Gln |
| ENST00000251595.11:c.63C>A MANE Select | ENSP00000251595.6:p.His21Gln |
| NM_000517.4:c.63C>A | NP_000508.1:p.His21Gln |
| ENST00000251595.10:c.63C>A | ENSP00000251595.6:p.His21Gln |
| ENST00000397806.1:c.-2+17C>A | ENSP00000380908.1:n.-2+17C>A |
| ENST00000482565.1:n.82C>A | |
| ENST00000484216.1:n.32C>A |