Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911153G= , CM000679.2:g.42911153G= | GRCh38 |
| NC_000017.10:g.41063170G= , CM000679.1:g.41063170G= | GRCh37 |
| NC_000017.9:g.38316696G= | NCBI36 |
| NG_011808.1:g.15356G= , LRG_147:g.15356G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.801G= MANE Select | ENSP00000253801.1:p.Thr267= | |
| ENST00000253801.6:c.801G= | ENSP00000253801.1:p.Thr267= | |
| ENST00000585489.1:c.*193G= | ENSP00000466202.1:n.*193G= | |
| ENST00000592383.5:c.*193G= | ENSP00000465958.1:n.*193G= | |
| NM_000151.3:c.801G= | NP_000142.2:p.Thr267= | |
| NM_001270397.1:c.*193G= | NP_001257326.1:n.*193G= | |
| NM_000151.4:c.801G= MANE Select | NP_000142.2:p.Thr267= | |
| NM_001270397.2:c.*193G= | NP_001257326.1:n.*193G= |