Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.256001C= , CM000669.2:g.256001C= | GRCh38 |
| NC_000007.13:g.295967C= , CM000669.1:g.295967C= | GRCh37 |
| NG_033970.1:g.65637C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1225C= MANE Select | NP_064608.2:p.Arg409= |
| ENST00000313766.6:c.1225C= MANE Select | ENSP00000322323.5:p.Arg409= |
| NM_020223.3:c.1225C= | NP_064608.2:p.Arg409= |
| ENST00000313766.5:c.1225C= | ENSP00000322323.5:p.Arg409= |
| ENST00000515795.1:n.882C= | |
| XM_017012450.1:c.1486C= | XP_016867939.1:p.Arg496= |
| XM_017012451.1:c.1483C= | XP_016867940.1:p.Arg495= |
| XM_017012455.2:c.523C= | XP_016867944.1:p.Arg175= |
| XR_242097.3:n.1372C= |