Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909416C>A , CM000679.2:g.42909416C>A | GRCh38 |
| NC_000017.10:g.41061433C>A , CM000679.1:g.41061433C>A | GRCh37 |
| NC_000017.9:g.38314959C>A | NCBI36 |
| NG_011808.1:g.13619C>A , LRG_147:g.13619C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.560C>A MANE Select | ENSP00000253801.1:p.Ser187Ter | |
| ENST00000253801.6:c.560C>A | ENSP00000253801.1:p.Ser187Ter | |
| ENST00000585489.1:c.447-1499C>A | ENSP00000466202.1:n.447-1499C>A | |
| ENST00000592383.5:c.483C>A | ENSP00000465958.1:p.Val161= | |
| NM_000151.3:c.560C>A | NP_000142.2:p.Ser187Ter | |
| NM_001270397.1:c.483C>A | NP_001257326.1:p.Val161= | |
| NM_000151.4:c.560C>A MANE Select | NP_000142.2:p.Ser187Ter | |
| NM_001270397.2:c.483C>A | NP_001257326.1:p.Val161= |