Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.54999187A>TCA116804BSNDc.1A>T (p.Met1Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.54999187A>GCA340470402BSNDc.1A>G (p.Met1Val)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched