Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601884C>A , CM000672.2:g.97601884C>A | GRCh38 |
| NC_000010.10:g.99361641C>A , CM000672.1:g.99361641C>A | GRCh37 |
| NC_000010.9:g.99351631C>A | NCBI36 |
| NG_027922.1:g.22540C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138413.4:c.728C>A MANE Select | NP_612422.2:p.Ala243Asp |
| ENST00000370646.9:c.728C>A MANE Select | ENSP00000359680.4:p.Ala243Asp |
| NM_001134670.1:c.239C>A | NP_001128142.1:p.Ala80Asp |
| NM_001134670.2:c.239C>A | NP_001128142.1:p.Ala80Asp |
| NM_138413.3:c.728C>A | NP_612422.2:p.Ala243Asp |
| ENST00000370642.4:c.138C>A | |
| ENST00000370646.8:c.728C>A | ENSP00000359680.4:p.Ala243Asp |
| ENST00000370647.8:c.239C>A | ENSP00000359681.4:p.Ala80Asp |
| ENST00000370649.3:c.239C>A | ENSP00000359683.3:p.Ala80Asp |