Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66714359C>ACA381483416SPTBN2c.532G>T (p.Ala178Ser)
c.553G>T (p.Ala185Ser)
n.1059G>T
dbSNP gnomAD v3 gnomAD v4
11g.66714359C>TCA16606980SPTBN2c.532G>A (p.Ala178Thr)
c.553G>A (p.Ala185Thr)
n.1059G>A
ClinVar dbSNP

Number of alleles fetched