Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100812975G>A , CM000669.2:g.100812975G>A | GRCh38 |
| NC_000007.13:g.100410597G>A , CM000669.1:g.100410597G>A | GRCh37 |
| NC_000007.12:g.100248533G>A | NCBI36 |
| NG_052671.1:g.19547C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.1890C>T MANE Select | NP_004435.3:p.Cys630= |
| ENST00000358173.8:c.1890C>T MANE Select | ENSP00000350896.3:p.Cys630= |
| NM_004444.4:c.1890C>T | NP_004435.3:p.Cys630= |
| ENST00000358173.7:c.1890C>T | ENSP00000350896.3:p.Cys630= |
| ENST00000360620.7:c.1890C>T | ENSP00000353833.3:p.Cys630= |
| ENST00000467515.1:n.265C>T | |
| ENST00000478459.5:n.369C>T | |
| ENST00000487222.5:n.3091C>T | |
| ENST00000616502.4:c.*355C>T | ENSP00000482702.1:n.*355C>T |
| XM_017011816.1:c.1944C>T | XP_016867305.1:p.Cys648= |