Canonical Allele Identifier: CA1063282080
Gene:

Linked Data

dbSNP Id: rs1756225407
gnomAD v3: 4-62557951-G-A
gnomAD v4: 4-62557951-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557951G>A , CM000666.2:g.62557951G>A GRCh38
NC_000004.11:g.63423669G>A , CM000666.1:g.63423669G>A GRCh37
NC_000004.10:g.63106264G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5893G>A
Search 100 bp 5'
Search 100 bp 3'