Canonical Allele Identifier: CA972459633
Gene:

Linked Data

dbSNP Id: rs1895002707
gnomAD v3: 15-87419478-C-T
gnomAD v4: 15-87419478-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419478C>T , CM000677.2:g.87419478C>T GRCh38
NC_000015.9:g.87962709C>T , CM000677.1:g.87962709C>T GRCh37
NC_000015.8:g.85763713C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_932584.1:n.340-207G>A
XR_932585.1:n.340-207G>A
XR_001751647.1:n.617-207G>A
XR_932585.2:n.627-207G>A
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