Canonical Allele Identifier: CA1063282120
Gene:

Linked Data

dbSNP Id: rs1413438294
gnomAD v3: 4-62558077-C-G
gnomAD v4: 4-62558077-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558077C>G , CM000666.2:g.62558077C>G GRCh38
NC_000004.11:g.63423795C>G , CM000666.1:g.63423795C>G GRCh37
NC_000004.10:g.63106390C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5767C>G
Search 100 bp 5'
Search 100 bp 3'