Canonical Allele Identifier: CA689874462
Gene:

Linked Data

dbSNP Id: rs1472754604
gnomAD v3: 12-5284165-G-C
gnomAD v4: 12-5284165-G-C
MyVariant Identifiers: chr12:g.5393331G>C (hg19) chr12:g.5284165G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5284165G>C , CM000674.2:g.5284165G>C GRCh38
NC_000012.11:g.5393331G>C , CM000674.1:g.5393331G>C GRCh37
NC_000012.10:g.5263592G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931576.1:n.611+7276G>C
XR_931577.1:n.611+7276G>C
XR_001748970.1:n.594+7276G>C
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