Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168488638C>T , CM000667.2:g.168488638C>T | GRCh38 |
| NC_000005.9:g.167915643C>T , CM000667.1:g.167915643C>T | GRCh37 |
| NC_000005.8:g.167848221C>T | NCBI36 |
| NG_041809.1:g.7181C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002887.4:c.82C>T MANE Select | NP_002878.2:p.Arg28Trp |
| ENST00000231572.8:c.82C>T MANE Select | ENSP00000231572.3:p.Arg28Trp |
| NM_002887.3:c.82C>T | NP_002878.2:p.Arg28Trp |
| ENST00000231572.7:c.82C>T | ENSP00000231572.3:p.Arg28Trp |
| ENST00000520013.5:c.82C>T | ENSP00000429030.1:p.Arg28Trp |
| ENST00000521329.5:c.*23C>T | ENSP00000428494.1:n.*23C>T |
| ENST00000521939.5:n.95C>T | |
| ENST00000522834.5:c.82C>T | ENSP00000430035.1:p.Arg28Trp |
| ENST00000524082.5:n.130C>T |