gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01215168 (AFR)
Genomes Max Group AF
0.01186061 (AFR)
Exomes Max Group AF
0.01188162 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31658209C>T , CM000668.2:g.31658209C>T | GRCh38 |
| NC_000006.11:g.31625986C>T , CM000668.1:g.31625986C>T | GRCh37 |
| NC_000006.10:g.31733965C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.*120C>T (APOM) MANE Select | ENSP00000365081.3:n.*120C>T | |
| ENST00000375916.3:c.*120C>T (APOM) | ENSP00000365081.3:n.*120C>T | |
| ENST00000375920.8:c.*120C>T (APOM) | ENSP00000365085.4:n.*120C>T | |
| NM_001256169.1:c.*120C>T (APOM) | NP_001243098.1:n.*120C>T | |
| NM_019101.2:c.*120C>T (APOM) | NP_061974.2:n.*120C>T | |
| NR_045828.1:n.722C>T (APOM) | ||
| XM_006715150.2:c.*120C>T (APOM) | XP_006715213.1:n.*120C>T | |
| XM_011514895.1:c.-14+2112G>A (BAG6) | XP_011513197.1:n.-14+2112G>A | |
| XM_006715150.3:c.*120C>T (APOM) | XP_006715213.1:n.*120C>T | |
| XM_017011279.2:c.-14+2112G>A (BAG6) | XP_016866768.1:n.-14+2112G>A | |
| NM_019101.3:c.*120C>T (APOM) MANE Select | NP_061974.2:n.*120C>T | |
| NM_001256169.2:c.*120C>T (APOM) | NP_001243098.1:n.*120C>T | |
| NR_045828.2:n.728C>T (APOM) |