Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89227897A>GCA382028614TYRc.1111A>G (p.Asn371Asp)
n.2717+43563T>C
n.2732+43563T>C
dbSNP gnomAD v4
11g.89227897A>TCA227498TYRc.1111A>T (p.Asn371Tyr)
n.2717+43563T>A
n.2732+43563T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched