Canonical Allele Identifier: CA972459637
Gene:

Linked Data

dbSNP Id: rs1895002930
gnomAD v3: 15-87419492-T-C
gnomAD v4: 15-87419492-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.87419492T>C , CM000677.2:g.87419492T>C GRCh38
NC_000015.9:g.87962723T>C , CM000677.1:g.87962723T>C GRCh37
NC_000015.8:g.85763727T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_932584.1:n.340-221A>G
XR_932585.1:n.340-221A>G
XR_001751647.1:n.617-221A>G
XR_932585.2:n.627-221A>G
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