gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78311925 (AFR)
Genomes Max Group AF
0.78311925 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64299934T>C , CM000676.2:g.64299934T>C | GRCh38 |
| NC_000014.8:g.64766652T>C , CM000676.1:g.64766652T>C | GRCh37 |
| NC_000014.7:g.63836405T>C | NCBI36 |
| NG_011535.1:g.43617A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358599.9:c.-90-16859A>G | ENSP00000351412.5:n.-90-16859A>G | |
| ENST00000554572.5:c.-371+1434A>G | ENSP00000450699.1:n.-371+1434A>G | |
| NM_001291712.1:c.-371+1434A>G | NP_001278641.1:n.-371+1434A>G | |
| NM_001291723.1:c.-90-16859A>G | NP_001278652.1:n.-90-16859A>G | |
| NR_073496.1:n.654-16859A>G | ||
| XM_011536546.1:c.-91+1434A>G | XP_011534848.1:n.-91+1434A>G | |
| XM_017021079.1:c.-90-16859A>G | XP_016876568.1:n.-90-16859A>G | |
| XM_017021080.1:c.-90-16859A>G | XP_016876569.1:n.-90-16859A>G | |
| XM_017021081.1:c.-90-16859A>G | XP_016876570.1:n.-90-16859A>G | |
| XM_017021082.1:c.-90-16859A>G | XP_016876571.1:n.-90-16859A>G | |
| XM_017021083.1:c.-90-16859A>G | XP_016876572.1:n.-90-16859A>G | |
| XM_017021084.1:c.-90-16859A>G | XP_016876573.1:n.-90-16859A>G | |
| NM_001291712.2:c.-371+1434A>G | NP_001278641.1:n.-371+1434A>G | |
| NR_073496.2:n.717-16859A>G |