Canonical Allele Identifier: CA972459639
Gene:

Linked Data

dbSNP Id: rs1895003432
gnomAD v3: 15-87419541-A-C
gnomAD v4: 15-87419541-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419541A>C , CM000677.2:g.87419541A>C GRCh38
NC_000015.9:g.87962772A>C , CM000677.1:g.87962772A>C GRCh37
NC_000015.8:g.85763776A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_932584.1:n.339+188T>G
XR_932585.1:n.339+188T>G
XR_001751647.1:n.616+188T>G
XR_932585.2:n.626+188T>G
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