Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29596156T= , CM000677.2:g.29596156T= | GRCh38 |
| NC_000015.9:g.29888360T= , CM000677.1:g.29888360T= | GRCh37 |
| NC_000015.8:g.27675652T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001387215.1:c.-70+78943A= | NP_001374144.1:n.-70+78943A= | |
| NM_001387216.1:c.-70+78943A= | NP_001374145.1:n.-70+78943A= | |
| NM_001387217.1:c.-70+78943A= | NP_001374146.1:n.-70+78943A= |