Canonical Allele Identifier: CA1063282023
Gene:

Linked Data

dbSNP Id: rs1756223917
gnomAD v3: 4-62557819-T-C
gnomAD v4: 4-62557819-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62557819T>C , CM000666.2:g.62557819T>C GRCh38
NC_000004.11:g.63423537T>C , CM000666.1:g.63423537T>C GRCh37
NC_000004.10:g.63106132T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-6025T>C
Search 100 bp 5'
Search 100 bp 3'