gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97574844 (EAS)
Genomes Max Group AF
0.97574844 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48700700C>A , CM000677.2:g.48700700C>A | GRCh38 |
| NC_000015.9:g.48992897C>A , CM000677.1:g.48992897C>A | GRCh37 |
| NC_000015.8:g.46780189C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931770.1:n.5210+16318G>T | ||
| XR_931771.1:n.5210+16318G>T | ||
| XR_931772.1:n.5210+16318G>T | ||
| XR_931773.1:n.5210+16318G>T | ||
| XR_931775.1:n.5180+16318G>T | ||
| XR_001751153.2:n.5295+16318G>T | ||
| XR_931770.3:n.5196+16318G>T | ||
| XR_931775.3:n.5166+16318G>T |