gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19329788 (MID)
Genomes Max Group AF
0.18462757 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10369195G>A , CM000674.2:g.10369195G>A | GRCh38 |
| NC_000012.11:g.10521794G>A , CM000674.1:g.10521794G>A | GRCh37 |
| NC_000012.10:g.10413061G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120430.1:n.266-4840G>A |