Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275178G= , CM000672.2:g.80275178G= | GRCh38 |
| NC_000010.10:g.82034934G= , CM000672.1:g.82034934G= | GRCh37 |
| NC_000010.9:g.82024914G= | NCBI36 |
| NG_008083.1:g.19501C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.790C= MANE Select | NP_000420.1:p.Arg264= |
| ENST00000372213.8:c.790C= MANE Select | ENSP00000361287.3:p.Arg264= |
| NM_000429.2:c.790C= | NP_000420.1:p.Arg264= |
| ENST00000372213.7:c.790C= | ENSP00000361287.3:p.Arg264= |
| ENST00000480845.1:n.22C= | |
| ENST00000485270.5:n.302C= | |
| XM_005269842.3:c.790C= | XP_005269899.1:p.Arg264= |
| XM_005269843.3:c.667C= | XP_005269900.1:p.Arg223= |