Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5227003C>GCA124989HBBc.19G>C (p.Glu7Gln)
n.70G>C
ClinVar dbSNP
11g.5227003C>ACA379274985HBBc.19G>T (p.Glu7Ter)
n.70G>T
ClinVar dbSNP gnomAD v4
11g.5227003C>TCA124780HBBc.19G>A (p.Glu7Lys)
n.70G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched