gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62428319 (AFR)
Genomes Max Group AF
0.62428319 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102963761A>G , CM000670.2:g.102963761A>G | GRCh38 |
| NC_000008.10:g.103975989A>G , CM000670.1:g.103975989A>G | GRCh37 |
| NC_000008.9:g.104045165A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126338.1:n.518-3836A>G | ||
| NR_126339.1:n.518-13826A>G |