Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7791674A= , CM000686.2:g.7791674A= | GRCh38 |
| NC_000024.9:g.7659715A= , CM000686.1:g.7659715A= | GRCh37 |
| NC_000024.8:g.7719715A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651261.1:n.115-14970T= | ||
| ENST00000652723.1:n.1026+13821T= | ||
| ENST00000442584.2:n.218+13821T= | ||
| XR_001756056.1:n.822-12160T= |