Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.89178093G>ACA227531TYRc.140G>A (p.Gly47Asp)
n.201G>A
n.2718-64560C>T
n.2733-64560C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.89178093G>TCA382033556TYRc.140G>T (p.Gly47Val)
n.201G>T
n.2718-64560C>A
n.2733-64560C>A
dbSNP gnomAD v4

Number of alleles fetched