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