Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319448G>T , CM000673.2:g.6319448G>T | GRCh38 |
| NC_000011.9:g.6340678G>T , CM000673.1:g.6340678G>T | GRCh37 |
| NC_000011.8:g.6297254G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.501C>A MANE Select | ENSP00000307292.3:p.Asp167Glu | |
| ENST00000303927.3:c.501C>A | ENSP00000307292.3:p.Asp167Glu | |
| ENST00000524852.1:n.287C>A | ||
| ENST00000530979.1:c.597C>A | ENSP00000432047.1:p.Asp199Glu | |
| ENST00000532354.1:n.523C>A | ||
| NM_145040.2:c.501C>A | NP_659477.2:p.Asp167Glu | |
| XR_930997.1:n.720+1228G>T | ||
| XR_001748106.1:n.59G>T | ||
| XR_242848.4:n.308G>T | ||
| NM_145040.3:c.501C>A MANE Select | NP_659477.2:p.Asp167Glu |