gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08627401 (AFR)
Genomes Max Group AF
0.08627401 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.12049118G>A , CM000673.2:g.12049118G>A | GRCh38 |
| NC_000011.9:g.12070665G>A , CM000673.1:g.12070665G>A | GRCh37 |
| NC_000011.8:g.12027241G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931035.1:n.57-9416G>A | ||
| NR_135109.1:n.57-9416G>A |