Canonical Allele Identifier: CA940061883
Gene:

Linked Data

dbSNP Id: rs1857189372
gnomAD v3: 11-81143398-A-G
gnomAD v4: 11-81143398-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.81143398A>G , CM000673.2:g.81143398A>G GRCh38
NC_000011.9:g.80854441A>G , CM000673.1:g.80854441A>G GRCh37
NC_000011.8:g.80532089A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_247272.2:n.46+109528T>C
Search 100 bp 5'
Search 100 bp 3'