Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183236593C>G , CM000663.2:g.183236593C>G | GRCh38 |
| NC_000001.10:g.183205728C>G , CM000663.1:g.183205728C>G | GRCh37 |
| NC_000001.9:g.181472351C>G | NCBI36 |
| NG_007079.2:g.55330C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.2590C>G MANE Select | NP_005553.2:p.Gln864Glu |
| ENST00000264144.5:c.2590C>G MANE Select | ENSP00000264144.4:p.Gln864Glu |
| NM_005562.2:c.2590C>G | NP_005553.2:p.Gln864Glu |
| NM_018891.2:c.2590C>G | NP_061486.2:p.Gln864Glu |
| NM_018891.3:c.2590C>G | NP_061486.2:p.Gln864Glu |
| ENST00000264144.4:c.2590C>G | ENSP00000264144.4:p.Gln864Glu |
| ENST00000493293.5:c.2590C>G | ENSP00000432063.1:p.Gln864Glu |