gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52394592 (EAS)
Genomes Max Group AF
0.52394592 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989684A>G , CM000681.2:g.55989684A>G | GRCh38 |
| NC_000019.9:g.56501050A>G , CM000681.1:g.56501050A>G | GRCh37 |
| NC_000019.8:g.61192862A>G | NCBI36 |
| NG_046924.1:g.7902A>G | |
| NG_051553.1:g.46853A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2863A>G | XP_011524746.1:n.-72+2863A>G |