gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65452857 (SAS)
Genomes Max Group AF
0.65452857 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.69615905A>G , CM000680.2:g.69615905A>G | GRCh38 |
| NC_000018.9:g.67283141A>G , CM000680.1:g.67283141A>G | GRCh37 |
| NC_000018.8:g.65434121A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382713.10:c.289+16407A>G MANE Select | ENSP00000372160.5:n.289+16407A>G | |
| ENST00000382713.9:c.289+16407A>G | ENSP00000372160.5:n.289+16407A>G | |
| NM_152721.5:c.289+16407A>G | NP_689934.2:n.289+16407A>G | |
| XM_011525873.1:c.289+16407A>G | XP_011524175.1:n.289+16407A>G | |
| XM_011525874.1:c.289+16407A>G | XP_011524176.1:n.289+16407A>G | |
| XM_011525875.1:c.289+16407A>G | XP_011524177.1:n.289+16407A>G | |
| XM_011525875.2:c.289+16407A>G | XP_011524177.1:n.289+16407A>G | |
| NM_152721.6:c.289+16407A>G MANE Select | NP_689934.2:n.289+16407A>G |