Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8073678G>C , CM000679.2:g.8073678G>C | GRCh38 |
| NC_000017.10:g.7976996G>C , CM000679.1:g.7976996G>C | GRCh37 |
| NC_000017.9:g.7917721G>C | NCBI36 |
| NG_007099.1:g.19026C>G | |
| NG_007099.2:g.19039C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1734C>G MANE Select | NP_001130.1:p.His578Gln |
| ENST00000647874.1:c.1734C>G MANE Select | ENSP00000497784.1:p.His578Gln |
| NM_001139.2:c.1734C>G | NP_001130.1:p.His578Gln |
| ENST00000319144.4:c.1734C>G | ENSP00000315167.4:p.His578Gln |
| ENST00000577351.5:n.480-360C>G | |
| ENST00000649809.1:c.798C>G | ENSP00000496845.1:p.His266Gln |
| ENST00000650441.1:n.157C>G |