gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11753714 (AFR)
Genomes Max Group AF
0.11753714 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31655116T>C , CM000668.2:g.31655116T>C | GRCh38 |
| NC_000006.11:g.31622893T>C , CM000668.1:g.31622893T>C | GRCh37 |
| NC_000006.10:g.31730872T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375918.6:c.-102-1356T>C (APOM) | ENSP00000365083.2:n.-102-1356T>C | |
| ENST00000375920.8:c.-102-1356T>C (APOM) | ENSP00000365085.4:n.-102-1356T>C | |
| NM_001256169.1:c.-102-1356T>C (APOM) | NP_001243098.1:n.-102-1356T>C | |
| NR_045828.1:n.143-1356T>C (APOM) | ||
| XM_011514895.1:c.-13-3340A>G (BAG6) | XP_011513197.1:n.-13-3340A>G | |
| XM_017011279.2:c.-13-3340A>G (BAG6) | XP_016866768.1:n.-13-3340A>G | |
| XM_024446545.1:c.-14+2648A>G (BAG6) | XP_024302313.1:n.-14+2648A>G | |
| NM_001256169.2:c.-102-1356T>C (APOM) | NP_001243098.1:n.-102-1356T>C | |
| NR_045828.2:n.149-1356T>C (APOM) |