Canonical Allele Identifier: CA1116344307
Gene:

Linked Data

dbSNP Id: rs1810441917
gnomAD v3: 8-88535724-T-C
gnomAD v4: 8-88535724-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535724T>C , CM000670.2:g.88535724T>C GRCh38
NC_000008.10:g.89547953T>C , CM000670.1:g.89547953T>C GRCh37
NC_000008.9:g.89617069T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10793A>G
XR_001745653.2:n.286-6956T>C
XR_928383.3:n.1475+10793A>G
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