Canonical Allele Identifier: CA963163185
Gene:

Linked Data

dbSNP Id: rs2034712487
gnomAD v3: 14-52417559-A-G
gnomAD v4: 14-52417559-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.52417559A>G , CM000676.2:g.52417559A>G GRCh38
NC_000014.8:g.52884277A>G , CM000676.1:g.52884277A>G GRCh37
NC_000014.7:g.51954027A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943866.1:n.3144T>C
Search 100 bp 5'
Search 100 bp 3'