gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09811689 (AFR)
Genomes Max Group AF
0.09811689 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.148226666G>A , CM000668.2:g.148226666G>A | GRCh38 |
| NC_000006.11:g.148547802G>A , CM000668.1:g.148547802G>A | GRCh37 |
| NC_000006.10:g.148589495G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006715406.2:c.12+14393G>A | XP_006715469.1:n.12+14393G>A | |
| XM_011535637.1:c.45+33041G>A | XP_011533939.1:n.45+33041G>A | |
| XM_011535639.1:c.45+33041G>A | XP_011533941.1:n.45+33041G>A | |
| XM_017010599.1:c.45+33041G>A | XP_016866088.1:n.45+33041G>A | |
| XM_024446384.1:c.45+33041G>A | XP_024302152.1:n.45+33041G>A |