Canonical Allele Identifier: CA529370067
Gene:

Linked Data

dbSNP Id: rs1311073226
gnomAD v2: 1-224256155-G-A
gnomAD v3: 1-224068453-G-A
gnomAD v4: 1-224068453-G-A
MyVariant Identifiers: chr1:g.224256155G>A (hg19) chr1:g.224068453G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068453G>A , CM000663.2:g.224068453G>A GRCh38
NC_000001.10:g.224256155G>A , CM000663.1:g.224256155G>A GRCh37
NC_000001.9:g.222322778G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949173.1:n.385+799G>A
XR_001737824.1:n.242+799G>A
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