Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508982C>GCA21829803MMACHCc.616C>G (p.Arg206Gly)
c.445C>G (p.Arg149Gly)
c.421C>G (p.Arg141Gly)
dbSNP gnomAD v3 gnomAD v4
1g.45508982C>TCA312738MMACHCc.616C>T (p.Arg206Trp)
c.445C>T (p.Arg149Trp)
c.421C>T (p.Arg141Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched