Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99218433C>A , CM000671.2:g.99218433C>A | GRCh38 |
| NC_000009.11:g.101980715C>A , CM000671.1:g.101980715C>A | GRCh37 |
| NC_000009.10:g.101020536C>A | NCBI36 |
| NG_008928.1:g.8532G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033087.4:c.752G>T MANE Select | NP_149078.1:p.Arg251Leu |
| ENST00000476832.2:c.752G>T MANE Select | ENSP00000417764.1:p.Arg251Leu |
| NM_033087.3:c.752G>T | NP_149078.1:p.Arg251Leu |
| NR_024532.1:n.981G>T | |
| NR_024532.2:n.959G>T | |
| ENST00000238477.5:c.*494G>T | ENSP00000432675.2:n.*494G>T |
| ENST00000319033.7:c.473G>T | ENSP00000326609.6:p.Arg158Leu |
| ENST00000476832.1:c.752G>T | ENSP00000417764.1:p.Arg251Leu |