Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133537760G>T , CM000672.2:g.133537760G>T | GRCh38 |
| NC_000010.10:g.135351264G>T , CM000672.1:g.135351264G>T | GRCh37 |
| NC_000010.9:g.135201254G>T | NCBI36 |
| NG_008383.1:g.15398G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000773.4:c.1165G>T MANE Select | NP_000764.1:p.Val389Leu |
| ENST00000252945.8:c.1165G>T MANE Select | ENSP00000252945.3:p.Val389Leu |
| NM_000773.3:c.1165G>T | NP_000764.1:p.Val389Leu |
| ENST00000252945.7:c.1165G>T | ENSP00000252945.3:p.Val389Leu |
| ENST00000368520.1:n.1226G>T | |
| ENST00000418356.1:c.754G>T | ENSP00000397299.1:p.Val252Leu |
| ENST00000421586.5:c.904G>T | ENSP00000412754.1:p.Val302Leu |
| ENST00000463117.6:c.1165G>T | ENSP00000440689.1:p.Val389Leu |
| ENST00000469258.1:n.261G>T | |
| ENST00000541080.5:c.581G>T |