Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582181G>T , CM000673.2:g.47582181G>T | GRCh38 |
| NC_000011.9:g.47603733G>T , CM000673.1:g.47603733G>T | GRCh37 |
| NC_000011.8:g.47560309G>T | NCBI36 |
| NG_011946.1:g.8172G>T | |
| NG_011946.2:g.8172G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004551.3:c.475G>T MANE Select | NP_004542.1:p.Val159Leu |
| ENST00000263774.9:c.475G>T MANE Select | ENSP00000263774.4:p.Val159Leu |
| NM_004551.2:c.475G>T | NP_004542.1:p.Val159Leu |
| ENST00000263774.8:c.475G>T | ENSP00000263774.4:p.Val159Leu |
| ENST00000524568.1:n.578G>T | |
| ENST00000525212.1:n.130G>T | |
| ENST00000525378.5:n.413G>T | |
| ENST00000531351.2:n.1535G>T | |
| ENST00000533507.5:n.1369G>T | |
| ENST00000677462.1:n.2949G>T | |
| ENST00000678975.1:n.2732G>T |