Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5234132G>ACA5839947HBDc.174C>T (p.Asn58=)
c.92+210C>T (n.92+210C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234132G>TCA124701HBDc.174C>A (p.Asn58Lys)
c.92+210C>A (n.92+210C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched