dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71134497 (EAS)
Genomes Max Group AF
0.71134497 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122052011G>T , CM000665.2:g.122052011G>T | GRCh38 |
| NC_000003.11:g.121770858G>T , CM000665.1:g.121770858G>T | GRCh37 |
| NC_000003.10:g.123253548G>T | NCBI36 |
| NG_029928.1:g.1650G>T | |
| NG_031870.2:g.13544C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+8409C>A | XP_011511041.1:n.-348+8409C>A | |
| XM_011512739.2:c.-348+8409C>A | XP_011511041.1:n.-348+8409C>A |