Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319176T= , CM000673.2:g.6319176T= | GRCh38 |
| NC_000011.9:g.6340406T= , CM000673.1:g.6340406T= | GRCh37 |
| NC_000011.8:g.6296982T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.773A= MANE Select | ENSP00000307292.3:p.Glu258= | |
| ENST00000303927.3:c.773A= | ENSP00000307292.3:p.Glu258= | |
| ENST00000524852.1:n.559A= | ||
| ENST00000530979.1:c.869A= | ENSP00000432047.1:p.Glu290= | |
| ENST00000532354.1:n.795A= | ||
| NM_145040.2:c.773A= | NP_659477.2:p.Glu258= | |
| XR_930997.1:n.720+956T= | ||
| XR_242848.4:n.36T= | ||
| NM_145040.3:c.773A= MANE Select | NP_659477.2:p.Glu258= |