Canonical Allele Identifier: CA287548458
Gene:

Linked Data

dbSNP Id: rs964636128
gnomAD v2: 17-8040589-G-A
gnomAD v3: 17-8137271-G-A
gnomAD v4: 17-8137271-G-A
MyVariant Identifiers: chr17:g.8040589G>A (hg19) chr17:g.8137271G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137271G>A , CM000679.2:g.8137271G>A GRCh38
NC_000017.10:g.8040589G>A , CM000679.1:g.8040589G>A GRCh37
NC_000017.9:g.7981314G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1578G>A
XR_934203.1:n.70-2206G>A
XR_934202.2:n.414-1578G>A
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