Canonical Allele Identifier: CA1076360694
Gene:

Linked Data

dbSNP Id: rs1748797156
gnomAD v3: 5-56899967-A-C
gnomAD v4: 5-56899967-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56899967A>C , CM000667.2:g.56899967A>C GRCh38
NC_000005.9:g.56195794A>C , CM000667.1:g.56195794A>C GRCh37
NC_000005.8:g.56231551A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948346.1:n.83-1671T>G
XR_948347.1:n.76+30T>G
XR_948347.3:n.406+30T>G
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