Canonical Allele Identifier: CA1098581745
Gene:

Linked Data

dbSNP Id: rs1783119465
gnomAD v3: 7-13400689-C-T
gnomAD v4: 7-13400689-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400689C>T , CM000669.2:g.13400689C>T GRCh38
NC_000007.13:g.13440314C>T , CM000669.1:g.13440314C>T GRCh37
NC_000007.12:g.13406839C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90366C>T
Search 100 bp 5'
Search 100 bp 3'