Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36350207T= , CM000673.2:g.36350207T= | GRCh38 |
| NC_000011.9:g.36371757T= , CM000673.1:g.36371757T= | GRCh37 |
| NC_000011.8:g.36328333T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001160167.2:c.-125-50790T= MANE Select | NP_001153639.1:n.-125-50790T= |
| ENST00000530639.6:c.-125-50790T= MANE Select | ENSP00000435050.1:n.-125-50790T= |
| NM_001160167.1:c.-125-50790T= | NP_001153639.1:n.-125-50790T= |
| ENST00000527172.5:c.-291-43639T= | ENSP00000433708.1:n.-291-43639T= |
| ENST00000529034.5:n.152-50790T= | |
| ENST00000530639.5:c.-125-50790T= | ENSP00000435050.1:n.-125-50790T= |
| ENST00000532121.5:c.-126+142T= | ENSP00000433893.1:n.-126+142T= |