Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66562898G>A , CM000673.2:g.66562898G>A | GRCh38 |
| NC_000011.9:g.66330369G>A , CM000673.1:g.66330369G>A | GRCh37 |
| NC_000011.8:g.66086945G>A | NCBI36 |
| NG_013304.2:g.20979G>A | |
| NG_032973.1:g.10679C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001104.4:c.2491G>A MANE Select | NP_001095.2:p.Glu831Lys |
| ENST00000513398.2:c.2491G>A MANE Select | ENSP00000426797.1:p.Glu831Lys |
| NM_001104.3:c.2491G>A | NP_001095.2:p.Glu831Lys |
| NM_001258371.2:c.2620G>A | NP_001245300.2:p.Glu874Lys |
| NM_001258371.3:c.2620G>A | NP_001245300.2:p.Glu874Lys |
| ENST00000502692.5:c.2620G>A | ENSP00000422007.1:p.Glu874Lys |
| ENST00000513398.1:c.2491G>A | ENSP00000426797.1:p.Glu831Lys |