Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445606G>ACA613437CTRCc.649G>A (p.Gly217Ser)
c.*103G>A (n.*103G>A)
n.413G>A
c.503G>A (p.Arg168Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445606G>CCA16616982CTRCc.649G>C (p.Gly217Arg)
c.*103G>C (n.*103G>C)
n.413G>C
c.503G>C (p.Arg168Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched