Canonical Allele Identifier: CA732115247
Gene:

Linked Data

dbSNP Id: rs1168237817
gnomAD v3: 1-224068624-G-C
gnomAD v4: 1-224068624-G-C
MyVariant Identifiers: chr1:g.224256326G>C (hg19) chr1:g.224068624G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.224068624G>C , CM000663.2:g.224068624G>C GRCh38
NC_000001.10:g.224256326G>C , CM000663.1:g.224256326G>C GRCh37
NC_000001.9:g.222322949G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949173.1:n.385+970G>C
XR_001737824.1:n.242+970G>C
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