gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287236A>G , CM000677.2:g.96287236A>G | GRCh38 |
| NC_000015.9:g.96830465A>G , CM000677.1:g.96830465A>G | GRCh37 |
| NC_000015.8:g.94631469A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.409+1428T>C | ||
| NR_125738.1:n.317+3394T>C |