Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378547C>TCA127650SERPINA1c.1159G>A (p.Glu387Lys)
c.*458G>A (n.*458G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94378547C>ACA390847611SERPINA1c.1159G>T (p.Glu387Ter)
c.*458G>T (n.*458G>T)
dbSNP

Number of alleles fetched