Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5234098C>GCA124649HBDc.208G>C (p.Gly70Arg)
c.92+244G>C (n.92+244G>C)
ClinVar dbSNP gnomAD v4
11g.5234098C>TCA217123923HBDc.208G>A (p.Gly70Ser)
c.92+244G>A (n.92+244G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched