Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287064A>T , CM000677.2:g.96287064A>T | GRCh38 |
| NC_000015.9:g.96830293A>T , CM000677.1:g.96830293A>T | GRCh37 |
| NC_000015.8:g.94631297A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.409+1600T>A | ||
| NR_125738.1:n.317+3566T>A |