gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20354483 (EAS)
Genomes Max Group AF
0.20359765 (EAS)
Exomes Max Group AF
0.19963983 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27597169T>C , CM000670.2:g.27597169T>C | GRCh38 |
| NC_000008.10:g.27454686T>C , CM000670.1:g.27454686T>C | GRCh37 |
| NC_000008.9:g.27510603T>C | NCBI36 |
| NG_027845.1:g.22642A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316403.15:c.*1072A>G (CLU) MANE Select | ENSP00000315130.10:n.*1072A>G | |
| ENST00000316403.14:c.*1072A>G (CLU) | ENSP00000315130.10:n.*1072A>G | |
| NM_001831.3:c.*1072A>G (CLU) | NP_001822.3:n.*1072A>G | |
| NR_038335.1:n.2743A>G (CLU) | ||
| NR_045494.1:n.2602A>G (CLU) | ||
| XR_949609.1:n.3292T>C | ||
| XR_949610.1:n.2605T>C | ||
| XR_949611.1:n.3251T>C | ||
| XR_001745491.1:n.2030T>C (EPHX2) | ||
| NM_001831.4:c.*1072A>G (CLU) MANE Select | NP_001822.3:n.*1072A>G | |
| NR_038335.2:n.2677A>G (CLU) |