Canonical Allele Identifier: CA180389506
Gene:

Linked Data

dbSNP Id: rs16909233
gnomAD v2: 8-82401680-G-A
gnomAD v3: 8-81489445-G-A
gnomAD v4: 8-81489445-G-A
MyVariant Identifiers: chr8:g.82401680G>A (hg19) chr8:g.81489445G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.81489445G>A , CM000670.2:g.81489445G>A GRCh38
NC_000008.10:g.82401680G>A , CM000670.1:g.82401680G>A GRCh37
NC_000008.9:g.82564235G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745980.1:n.514+27471G>A
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