gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68783352 (EAS)
Genomes Max Group AF
0.68783352 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10202869A>G , CM000682.2:g.10202869A>G | GRCh38 |
| NC_000020.10:g.10183517A>G , CM000682.1:g.10183517A>G | GRCh37 |
| NC_000020.9:g.10131517A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689077.1:n.392+30083A>G (SNAP25) | ||
| ENST00000690099.1:n.392+30083A>G (SNAP25) | ||
| ENST00000690766.1:n.392+30083A>G (SNAP25) | ||
| ENST00000693732.1:n.392+30083A>G (SNAP25) | ||
| NR_040710.1:n.271-5932T>C (SNAP25-AS1) |