Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911102G>A , CM000679.2:g.42911102G>A | GRCh38 |
| NC_000017.10:g.41063119G>A , CM000679.1:g.41063119G>A | GRCh37 |
| NC_000017.9:g.38316645G>A | NCBI36 |
| NG_011808.1:g.15305G>A , LRG_147:g.15305G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.750G>A MANE Select | NP_000142.2:p.Trp250Ter |
| ENST00000253801.7:c.750G>A MANE Select | ENSP00000253801.1:p.Trp250Ter |
| NM_000151.3:c.750G>A | NP_000142.2:p.Trp250Ter |
| NM_001270397.1:c.*142G>A | NP_001257326.1:n.*142G>A |
| NM_001270397.2:c.*142G>A | NP_001257326.1:n.*142G>A |
| ENST00000253801.6:c.750G>A | ENSP00000253801.1:p.Trp250Ter |
| ENST00000585489.1:c.*142G>A | ENSP00000466202.1:n.*142G>A |
| ENST00000592383.5:c.*142G>A | ENSP00000465958.1:n.*142G>A |