Canonical Allele Identifier: CA591591201
Gene:

Linked Data

dbSNP Id: rs1484752720
gnomAD v2: 10-3408984-A-G
gnomAD v3: 10-3366792-A-G
gnomAD v4: 10-3366792-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3366792A>G , CM000672.2:g.3366792A>G GRCh38
NC_000010.10:g.3408984A>G , CM000672.1:g.3408984A>G GRCh37
NC_000010.9:g.3398984A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_131187.1:n.162+47936A>G