gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15531289 (AFR)
Genomes Max Group AF
0.15531289 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72134495A>G , CM000673.2:g.72134495A>G | GRCh38 |
| NC_000011.9:g.71845541A>G , CM000673.1:g.71845541A>G | GRCh37 |
| NC_000011.8:g.71523189A>G | NCBI36 |
| NG_032935.1:g.3771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622388.4:c.-6-1452A>G | ENSP00000481833.1:n.-6-1452A>G |