Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717899G>C , CM000674.2:g.12717899G>C | GRCh38 |
| NC_000012.11:g.12870833G>C , CM000674.1:g.12870833G>C | GRCh37 |
| NC_000012.10:g.12762100G>C | NCBI36 |
| NG_016341.1:g.5532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.60G>C | ENSP00000507272.1:p.Gln20His | |
| ENST00000682620.1:n.1631-926G>C | ||
| ENST00000684771.1:n.585-926G>C | ||
| ENST00000228872.9:c.60G>C MANE Select | ENSP00000228872.4:p.Gln20His | |
| ENST00000228872.8:c.60G>C | ENSP00000228872.4:p.Gln20His | |
| ENST00000396340.1:c.60G>C | ENSP00000379629.1:p.Gln20His | |
| ENST00000442489.1:c.39G>C | ENSP00000407597.1:p.Gln13His | |
| ENST00000477087.1:n.155-926G>C | ||
| NM_004064.4:c.60G>C | NP_004055.1:p.Gln20His | |
| NM_004064.5:c.60G>C MANE Select | NP_004055.1:p.Gln20His |