gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42837115 (AFR)
Genomes Max Group AF
0.42837115 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89915950G>A , CM000678.2:g.89915950G>A | GRCh38 |
| NC_000016.9:g.89982358G>A , CM000678.1:g.89982358G>A | GRCh37 |
| NC_000016.8:g.88509859G>A | NCBI36 |
| NG_012026.1:g.3072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639847.1:c.-581+810G>A | ENSP00000492011.1:n.-581+810G>A | |
| ENST00000555427.1:c.-581+810G>A | ENSP00000451760.1:n.-581+810G>A | |
| XR_933899.1:n.1967G>A |