Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160195475G>A , CM000663.2:g.160195475G>A | GRCh38 |
| NC_000001.10:g.160165265G>A , CM000663.1:g.160165265G>A | GRCh37 |
| NC_000001.9:g.158431889G>A | NCBI36 |
| NG_042040.1:g.9981G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.592G>A MANE Select | NP_001222.3:p.Glu198Lys |
| ENST00000368078.8:c.592G>A MANE Select | ENSP00000357057.3:p.Glu198Lys |
| NM_001231.4:c.592G>A | NP_001222.3:p.Glu198Lys |
| ENST00000368078.7:c.592G>A | ENSP00000357057.3:p.Glu198Lys |
| ENST00000481081.1:n.477G>A |