gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67679637 (EAS)
Genomes Max Group AF
0.67679637 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104942078G>A , CM000668.2:g.104942078G>A | GRCh38 |
| NC_000006.11:g.105389953G>A , CM000668.1:g.105389953G>A | GRCh37 |
| NC_000006.10:g.105496646G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635857.1:c.18+4962G>A | ENSP00000489735.1:n.18+4962G>A | |
| ENST00000637759.1:c.-16+1066G>A | ENSP00000490468.1:n.-16+1066G>A | |
| XM_006715477.2:c.18+4962G>A | XP_006715540.2:n.18+4962G>A | |
| XM_011535818.1:c.-16+1066G>A | XP_011534120.1:n.-16+1066G>A | |
| XM_011535818.3:c.-16+1066G>A | XP_011534120.1:n.-16+1066G>A |