Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7790671T= , CM000686.2:g.7790671T= | GRCh38 |
| NC_000024.9:g.7658712T= , CM000686.1:g.7658712T= | GRCh37 |
| NC_000024.8:g.7718712T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-13967A= | ||
| ENST00000652723.1:n.1027-13967A= | ||
| ENST00000442584.2:n.219-13643A= | ||
| XR_001756056.1:n.822-11157A= |