Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076694C>A , CM000679.2:g.8076694C>A | GRCh38 |
| NC_000017.10:g.7980012C>A , CM000679.1:g.7980012C>A | GRCh37 |
| NC_000017.9:g.7920737C>A | NCBI36 |
| NG_007099.1:g.16010G>T | |
| NG_007099.2:g.16023G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1325G>T MANE Select | NP_001130.1:p.Arg442Leu |
| ENST00000647874.1:c.1325G>T MANE Select | ENSP00000497784.1:p.Arg442Leu |
| NM_001139.2:c.1325G>T | NP_001130.1:p.Arg442Leu |
| ENST00000319144.4:c.1325G>T | ENSP00000315167.4:p.Arg442Leu |
| ENST00000577351.5:n.272G>T | |
| ENST00000583276.5:n.709G>T | |
| ENST00000584116.1:n.581G>T | |
| ENST00000649809.1:c.389G>T | ENSP00000496845.1:p.Arg130Leu |