Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275178G>A , CM000672.2:g.80275178G>A | GRCh38 |
| NC_000010.10:g.82034934G>A , CM000672.1:g.82034934G>A | GRCh37 |
| NC_000010.9:g.82024914G>A | NCBI36 |
| NG_008083.1:g.19501C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000429.3:c.790C>T MANE Select | NP_000420.1:p.Arg264Cys |
| ENST00000372213.8:c.790C>T MANE Select | ENSP00000361287.3:p.Arg264Cys |
| NM_000429.2:c.790C>T | NP_000420.1:p.Arg264Cys |
| ENST00000372213.7:c.790C>T | ENSP00000361287.3:p.Arg264Cys |
| ENST00000480845.1:n.22C>T | |
| ENST00000485270.5:n.302C>T | |
| XM_005269842.3:c.790C>T | XP_005269899.1:p.Arg264Cys |
| XM_005269843.3:c.667C>T | XP_005269900.1:p.Arg223Cys |