Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877095C>A , CM000668.2:g.131877095C>A | GRCh38 |
| NC_000006.11:g.132198235C>A , CM000668.1:g.132198235C>A | GRCh37 |
| NC_000006.10:g.132239928C>A | NCBI36 |
| NG_008206.1:g.74080C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.699C>A | ||
| ENST00000684536.1:n.325C>A | ||
| ENST00000647893.1:c.1827C>A MANE Select | ENSP00000498074.1:p.His609Gln | |
| ENST00000647981.1:n.512C>A | ||
| ENST00000650437.1:c.1318C>A | ||
| ENST00000360971.6:c.1827C>A | ENSP00000354238.2:p.His609Gln | |
| ENST00000459624.1:n.871C>A | ||
| ENST00000513998.5:c.*664C>A | ENSP00000422424.1:n.*664C>A | |
| NM_006208.2:c.1827C>A | NP_006199.2:p.His609Gln | |
| XM_011535896.1:c.717C>A | XP_011534198.1:p.His239Gln | |
| NM_006208.3:c.1827C>A MANE Select | NP_006199.2:p.His609Gln |