Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319215C>T , CM000673.2:g.6319215C>T | GRCh38 |
| NC_000011.9:g.6340445C>T , CM000673.1:g.6340445C>T | GRCh37 |
| NC_000011.8:g.6297021C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.734G>A MANE Select | ENSP00000307292.3:p.Gly245Glu | |
| ENST00000303927.3:c.734G>A | ENSP00000307292.3:p.Gly245Glu | |
| ENST00000524852.1:n.520G>A | ||
| ENST00000530979.1:c.830G>A | ENSP00000432047.1:p.Gly277Glu | |
| ENST00000532354.1:n.756G>A | ||
| NM_145040.2:c.734G>A | NP_659477.2:p.Gly245Glu | |
| XR_930997.1:n.720+995C>T | ||
| XR_242848.4:n.75C>T | ||
| NM_145040.3:c.734G>A MANE Select | NP_659477.2:p.Gly245Glu |