Canonical Allele Identifier: CA232209165
Gene:

Linked Data

dbSNP Id: rs923211834
gnomAD v3: 12-5284108-A-G
gnomAD v4: 12-5284108-A-G
MyVariant Identifiers: chr12:g.5393274A>G (hg19) chr12:g.5284108A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5284108A>G , CM000674.2:g.5284108A>G GRCh38
NC_000012.11:g.5393274A>G , CM000674.1:g.5393274A>G GRCh37
NC_000012.10:g.5263535A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931576.1:n.611+7219A>G
XR_931577.1:n.611+7219A>G
XR_001748970.1:n.594+7219A>G
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