gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46169197 (SAS)
Genomes Max Group AF
0.46778562 (SAS)
Exomes Max Group AF
0.46043461 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62419070G>A , CM000673.2:g.62419070G>A | GRCh38 |
| NC_000011.9:g.62186542G>A , CM000673.1:g.62186542G>A | GRCh37 |
| NC_000011.8:g.61943118G>A | NCBI36 |
| NG_021331.1:g.5036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278282.3:c.-26G>A MANE Select | ENSP00000278282.2:n.-26G>A | |
| ENST00000278282.2:c.-26G>A | ENSP00000278282.2:n.-26G>A | |
| ENST00000534397.5:c.-51+2433G>A | ENSP00000432866.1:n.-51+2433G>A | |
| NM_003357.4:c.-26G>A | NP_003348.1:n.-26G>A | |
| XR_950170.1:n.378-2220C>T | ||
| XR_950171.1:n.234-2220C>T | ||
| XR_950172.1:n.234-2220C>T | ||
| XR_950173.1:n.234-2220C>T | ||
| XR_950174.1:n.234-2220C>T | ||
| XR_001748247.1:n.348-2220C>T | ||
| XR_001748248.1:n.453-2220C>T | ||
| XR_001748249.1:n.459-2220C>T | ||
| XR_001748250.1:n.455-2220C>T | ||
| XR_001748252.1:n.460-2220C>T | ||
| XR_001748253.1:n.180-2220C>T | ||
| XR_001748254.1:n.461-2220C>T | ||
| XR_002957250.1:n.451-2220C>T | ||
| NM_003357.5:c.-26G>A MANE Select | NP_003348.1:n.-26G>A |