Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287248A>G , CM000677.2:g.96287248A>G | GRCh38 |
| NC_000015.9:g.96830477A>G , CM000677.1:g.96830477A>G | GRCh37 |
| NC_000015.8:g.94631481A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.409+1416T>C | ||
| NR_125738.1:n.317+3382T>C |