Canonical Allele Identifier: CA963163244
Gene:

Linked Data

dbSNP Id: rs2046810817
gnomAD v3: 14-52417679-G-T
gnomAD v4: 14-52417679-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.52417679G>T , CM000676.2:g.52417679G>T GRCh38
NC_000014.8:g.52884397G>T , CM000676.1:g.52884397G>T GRCh37
NC_000014.7:g.51954147G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943866.1:n.3024C>A
Search 100 bp 5'
Search 100 bp 3'