Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173510C>A , CM000678.2:g.173510C>A | GRCh38 |
| NC_000016.9:g.223509C>A , CM000678.1:g.223509C>A | GRCh37 |
| NC_000016.8:g.163509C>A | NCBI36 |
| NG_000006.1:g.34373C>A | |
| NG_059186.1:g.1860C>A | |
| NG_059271.1:g.5664C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.339C>A MANE Select | NP_000508.1:p.His113Gln |
| ENST00000251595.11:c.339C>A MANE Select | ENSP00000251595.6:p.His113Gln |
| NM_000517.4:c.339C>A | NP_000508.1:p.His113Gln |
| ENST00000251595.10:c.339C>A | ENSP00000251595.6:p.His113Gln |
| ENST00000397806.1:c.243C>A | ENSP00000380908.1:p.His81Gln |
| ENST00000482565.1:n.475C>A |