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