Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71124445G>ACA339966MCEEc.139C>T (p.Arg47Ter)
c.7C>T (p.Arg3Ter)
c.-147C>T (n.-147C>T)
n.208C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71124445G>CCA347189294MCEEc.139C>G (p.Arg47Gly)
c.7C>G (p.Arg3Gly)
c.-147C>G (n.-147C>G)
n.208C>G
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched