Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160197594G>A , CM000663.2:g.160197594G>A | GRCh38 |
| NC_000001.10:g.160167384G>A , CM000663.1:g.160167384G>A | GRCh37 |
| NC_000001.9:g.158434008G>A | NCBI36 |
| NG_042040.1:g.12100G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.808G>A MANE Select | NP_001222.3:p.Glu270Lys |
| ENST00000368078.8:c.808G>A MANE Select | ENSP00000357057.3:p.Glu270Lys |
| NM_001231.4:c.808G>A | NP_001222.3:p.Glu270Lys |
| ENST00000368078.7:c.808G>A | ENSP00000357057.3:p.Glu270Lys |
| ENST00000481081.1:n.693G>A |