Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46686787C>A , CM000682.2:g.46686787C>A | GRCh38 |
| NC_000020.10:g.45315426C>A , CM000682.1:g.45315426C>A | GRCh37 |
| NC_000020.9:g.44748833C>A | NCBI36 |
| NG_047182.1:g.2699G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033550.4:c.728G>T MANE Select | NP_291028.3:p.Arg243Leu |
| ENST00000372114.4:c.728G>T MANE Select | ENSP00000361186.3:p.Arg243Leu |
| NM_033550.3:c.728G>T | NP_291028.3:p.Arg243Leu |
| ENST00000372102.3:c.*367G>T | ENSP00000361174.3:n.*367G>T |
| ENST00000372114.3:c.728G>T | ENSP00000361186.3:p.Arg243Leu |