gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25559364 (SAS)
Genomes Max Group AF
0.25559364 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113901867A>G , CM000673.2:g.113901867A>G | GRCh38 |
| NC_000011.9:g.113772589A>G , CM000673.1:g.113772589A>G | GRCh37 |
| NC_000011.8:g.113277799A>G | NCBI36 |
| NG_011483.1:g.2001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011543064.1:c.12+2784A>G | XP_011541366.1:n.12+2784A>G | |
| XM_024448767.1:c.-243+2784A>G | XP_024304535.1:n.-243+2784A>G |