Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218240G>A , CM000671.2:g.99218240G>A | GRCh38 |
| NC_000009.11:g.101980522G>A , CM000671.1:g.101980522G>A | GRCh37 |
| NC_000009.10:g.101020343G>A | NCBI36 |
| NG_008928.1:g.8725C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.945C>T MANE Select | NP_149078.1:p.Cys315= |
| ENST00000476832.2:c.945C>T MANE Select | ENSP00000417764.1:p.Cys315= |
| NM_033087.3:c.945C>T | NP_149078.1:p.Cys315= |
| NR_024532.1:n.1174C>T | |
| NR_024532.2:n.1152C>T | |
| ENST00000238477.5:c.*687C>T | ENSP00000432675.2:n.*687C>T |
| ENST00000319033.7:c.666C>T | ENSP00000326609.6:p.Cys222= |
| ENST00000476832.1:c.945C>T | ENSP00000417764.1:p.Cys315= |