Canonical Allele Identifier: CA2597716888
Gene:

Linked Data

dbSNP Id: rs1285713019
gnomAD v3: 15-87419485-G-C
gnomAD v4: 15-87419485-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419485G>C , CM000677.2:g.87419485G>C GRCh38
NC_000015.9:g.87962716G>C , CM000677.1:g.87962716G>C GRCh37
NC_000015.8:g.85763720G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_932584.1:n.340-214C>G
XR_932585.1:n.340-214C>G
XR_001751647.1:n.617-214C>G
XR_932585.2:n.627-214C>G
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