gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82705303 (AFR)
Genomes Max Group AF
0.82705303 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109277761G>A , CM000668.2:g.109277761G>A | GRCh38 |
| NC_000006.11:g.109598964G>A , CM000668.1:g.109598964G>A | GRCh37 |
| NC_000006.10:g.109705657G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368966.10:n.3277-4806G>A | ||
| XM_011535379.1:c.1909-4806G>A | XP_011533681.1:n.1909-4806G>A | |
| NR_152435.1:n.3360-4806G>A |