gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03101002 (AFR)
Genomes Max Group AF
0.03165821 (AFR)
Exomes Max Group AF
0.01950453 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31655639G>A , CM000668.2:g.31655639G>A | GRCh38 |
| NC_000006.11:g.31623416G>A , CM000668.1:g.31623416G>A | GRCh37 |
| NC_000006.10:g.31731395G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.3:c.-328G>A (APOM) | ENSP00000365081.3:n.-328G>A | |
| ENST00000375918.6:c.-102-833G>A (APOM) | ENSP00000365083.2:n.-102-833G>A | |
| ENST00000375920.8:c.-102-833G>A (APOM) | ENSP00000365085.4:n.-102-833G>A | |
| NM_001256169.1:c.-102-833G>A (APOM) | NP_001243098.1:n.-102-833G>A | |
| NR_045828.1:n.143-833G>A (APOM) | ||
| XM_006715150.2:c.-431G>A (APOM) | XP_006715213.1:n.-431G>A | |
| XM_011514895.1:c.-13-3863C>T (BAG6) | XP_011513197.1:n.-13-3863C>T | |
| XM_017011279.2:c.-13-3863C>T (BAG6) | XP_016866768.1:n.-13-3863C>T | |
| XM_024446545.1:c.-14+2125C>T (BAG6) | XP_024302313.1:n.-14+2125C>T | |
| NM_001256169.2:c.-102-833G>A (APOM) | NP_001243098.1:n.-102-833G>A | |
| NR_045828.2:n.149-833G>A (APOM) |