Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169549874C>ACA343124739F5c.1538G>T (p.Arg513Ile)
c.1127G>T (p.Arg376Ile)
dbSNP
1g.169549874C>GCA343124741F5c.1538G>C (p.Arg513Thr)
c.1127G>C (p.Arg376Thr)
dbSNP gnomAD v3 gnomAD v4
1g.169549874C>TCA1234296F5c.1538G>A (p.Arg513Lys)
c.1127G>A (p.Arg376Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched