Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148725C>A , CM000663.2:g.16148725C>A | GRCh38 |
| NC_000001.10:g.16475220C>A , CM000663.1:g.16475220C>A | GRCh37 |
| NC_000001.9:g.16347807C>A | NCBI36 |
| NG_021396.1:g.12363G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.476G>T MANE Select | NP_004422.2:p.Arg159Leu |
| ENST00000358432.8:c.476G>T MANE Select | ENSP00000351209.5:p.Arg159Leu |
| NM_001329090.1:c.314G>T | NP_001316019.1:p.Arg105Leu |
| NM_001329090.2:c.314G>T | NP_001316019.1:p.Arg105Leu |
| NM_004431.3:c.476G>T | NP_004422.2:p.Arg159Leu |
| NM_004431.4:c.476G>T | NP_004422.2:p.Arg159Leu |
| ENST00000358432.7:c.476G>T | ENSP00000351209.5:p.Arg159Leu |
| ENST00000461614.1:n.528G>T | |
| XM_017000537.1:c.476G>T | XP_016856026.1:p.Arg159Leu |