gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57232517 (NFE)
Genomes Max Group AF
0.57232517 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79059375A>G , CM000672.2:g.79059375A>G | GRCh38 |
| NC_000010.10:g.80819132A>G , CM000672.1:g.80819132A>G | GRCh37 |
| NC_000010.9:g.80489138A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015429.1:n.273+6372T>C | ||
| NR_024429.1:n.273+6372T>C | ||
| NR_024431.2:n.274-4647T>C |