Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319269G= , CM000673.2:g.6319269G= | GRCh38 |
| NC_000011.9:g.6340499G= , CM000673.1:g.6340499G= | GRCh37 |
| NC_000011.8:g.6297075G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.680C= MANE Select | ENSP00000307292.3:p.Ala227= | |
| ENST00000303927.3:c.680C= | ENSP00000307292.3:p.Ala227= | |
| ENST00000524852.1:n.466C= | ||
| ENST00000530979.1:c.776C= | ENSP00000432047.1:p.Ala259= | |
| ENST00000532354.1:n.702C= | ||
| NM_145040.2:c.680C= | NP_659477.2:p.Ala227= | |
| XR_930997.1:n.720+1049G= | ||
| XR_242848.4:n.129G= | ||
| NM_145040.3:c.680C= MANE Select | NP_659477.2:p.Ala227= |