Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36350147T>A , CM000673.2:g.36350147T>A | GRCh38 |
| NC_000011.9:g.36371697T>A , CM000673.1:g.36371697T>A | GRCh37 |
| NC_000011.8:g.36328273T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530639.6:c.-125-50850T>A MANE Select | ENSP00000435050.1:n.-125-50850T>A | |
| ENST00000527172.5:c.-291-43699T>A | ENSP00000433708.1:n.-291-43699T>A | |
| ENST00000529034.5:n.152-50850T>A | ||
| ENST00000530639.5:c.-125-50850T>A | ENSP00000435050.1:n.-125-50850T>A | |
| ENST00000532121.5:c.-126+82T>A | ENSP00000433893.1:n.-126+82T>A | |
| NM_001160167.1:c.-125-50850T>A | NP_001153639.1:n.-125-50850T>A | |
| NM_001160167.2:c.-125-50850T>A MANE Select | NP_001153639.1:n.-125-50850T>A |