Canonical Allele Identifier: CA181547512
Gene:

Linked Data

dbSNP Id: rs938658702
gnomAD v2: 8-89548030-T-G
gnomAD v3: 8-88535801-T-G
gnomAD v4: 8-88535801-T-G
MyVariant Identifiers: chr8:g.89548030T>G (hg19) chr8:g.88535801T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535801T>G , CM000670.2:g.88535801T>G GRCh38
NC_000008.10:g.89548030T>G , CM000670.1:g.89548030T>G GRCh37
NC_000008.9:g.89617146T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745651.2:n.1673+10716A>C
XR_001745653.2:n.286-6879T>G
XR_928383.3:n.1475+10716A>C
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