gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60497063 (NFE)
Genomes Max Group AF
0.60497063 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4677604A>G , CM000672.2:g.4677604A>G | GRCh38 |
| NC_000010.10:g.4719796A>G , CM000672.1:g.4719796A>G | GRCh37 |
| NC_000010.9:g.4709796A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024475.1:n.22+445T>C | ||
| XR_930595.1:n.1911+785A>G | ||
| XR_930596.1:n.1900+785A>G | ||
| XR_001747338.1:n.1911+785A>G |