2 | g.174759502G>A | CA1974690 | CHRNA1 | c.-315C>T (n.-315C>T) c.175C>T (p.Gln59Ter) c.196C>T (p.Gln66Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174759502G>C | CA349344290 | CHRNA1 | c.-315C>G (n.-315C>G) c.175C>G (p.Gln59Glu) c.196C>G (p.Gln66Glu)
| dbSNP |