gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74590044 (NFE)
Genomes Max Group AF
0.74590044 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78714240T>C , CM000677.2:g.78714240T>C | GRCh38 |
| NC_000015.9:g.79006582T>C , CM000677.1:g.79006582T>C | GRCh37 |
| NC_000015.8:g.76793637T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558216.1:n.144-6135A>G (CHRNB4) | ||
| ENST00000560511.5:n.110+5937A>G (CHRNB4) | ||
| ENST00000565476.5:n.317-5065T>C (GOLGA6GP) | ||
| XR_932508.1:n.489-6135A>G | ||
| XR_932509.1:n.445-6135A>G | ||
| XR_932510.1:n.475+1372A>G | ||
| XR_932511.1:n.178+4128A>G | ||
| XR_002957695.1:n.887-5065T>C (GOLGA6GP) | ||
| XR_002957696.1:n.887-5065T>C (GOLGA6GP) | ||
| XR_932510.2:n.508+1372A>G | ||
| XR_932511.2:n.257+4128A>G |