Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718283C= , CM000674.2:g.12718283C= | GRCh38 |
| NC_000012.11:g.12871217C= , CM000674.1:g.12871217C= | GRCh37 |
| NC_000012.10:g.12762484C= | NCBI36 |
| NG_016341.1:g.5916C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.444C= | ENSP00000507272.1:p.Cys148= | |
| ENST00000682620.1:n.1631-542C= | ||
| ENST00000684771.1:n.585-542C= | ||
| ENST00000228872.9:c.444C= MANE Select | ENSP00000228872.4:p.Cys148= | |
| ENST00000228872.8:c.444C= | ENSP00000228872.4:p.Cys148= | |
| ENST00000396340.1:c.444C= | ENSP00000379629.1:p.Cys148= | |
| ENST00000442489.1:c.193+230C= | ENSP00000407597.1:n.193+230C= | |
| ENST00000477087.1:n.155-542C= | ||
| NM_004064.4:c.444C= | NP_004055.1:p.Cys148= | |
| NM_004064.5:c.444C= MANE Select | NP_004055.1:p.Cys148= |