Canonical Allele Identifier: CA987758061
Gene:

Linked Data

dbSNP Id: rs1969409229
gnomAD v3: 18-10382912-C-T
gnomAD v4: 18-10382912-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10382912C>T , CM000680.2:g.10382912C>T GRCh38
NC_000018.9:g.10382909C>T , CM000680.1:g.10382909C>T GRCh37
NC_000018.8:g.10372909C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935143.1:n.919+1559C>T
Search 100 bp 5'
Search 100 bp 3'