Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6633485C>A , CM000673.2:g.6633485C>A | GRCh38 |
| NC_000011.9:g.6654716C>A , CM000673.1:g.6654716C>A | GRCh37 |
| NC_000011.8:g.6611292C>A | NCBI36 |
| NG_033858.1:g.27365G>T | |
| NG_033858.2:g.27365G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.2382G>T MANE Select | NP_003728.1:p.Gln794His |
| ENST00000299441.5:c.2382G>T MANE Select | ENSP00000299441.3:p.Gln794His |
| NM_003737.3:c.2382G>T | NP_003728.1:p.Gln794His |
| ENST00000299441.4:c.2382G>T | ENSP00000299441.3:p.Gln794His |
| ENST00000680123.1:n.266G>T |