Canonical Allele Identifier: CA987761714
Gene:

Linked Data

dbSNP Id: rs1968771612
gnomAD v3: 18-10321457-C-G
gnomAD v4: 18-10321457-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10321457C>G , CM000680.2:g.10321457C>G GRCh38
NC_000018.9:g.10321454C>G , CM000680.1:g.10321454C>G GRCh37
NC_000018.8:g.10311454C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_935138.1:n.665+691G>C
XR_001753344.1:n.650+691G>C
XR_001753345.1:n.664G>C
XR_001753346.1:n.549+691G>C
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