gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27371359 (MID)
Genomes Max Group AF
0.23979263 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89820841G>A , CM000678.2:g.89820841G>A | GRCh38 |
| NC_000016.9:g.89887249G>A , CM000678.1:g.89887249G>A | GRCh37 |
| NC_000016.8:g.88414750G>A | NCBI36 |
| NG_011706.1:g.817C>T , LRG_495:g.817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564878.5:n.360+2303G>A | ||
| ENST00000565103.1:n.290-1392G>A | ||
| XM_011523379.1:c.85+2303G>A | XP_011521681.1:n.85+2303G>A | |
| XM_011523381.1:c.-53+2303G>A | XP_011521683.1:n.-53+2303G>A | |
| XM_011523379.2:c.85+2303G>A | XP_011521681.1:n.85+2303G>A | |
| XM_011523381.2:c.-53+2303G>A | XP_011521683.1:n.-53+2303G>A |