Canonical Allele Identifier: CA987758065
Gene:

Linked Data

dbSNP Id: rs1769676352
gnomAD v3: 18-10382921-G-C
gnomAD v4: 18-10382921-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10382921G>C , CM000680.2:g.10382921G>C GRCh38
NC_000018.9:g.10382918G>C , CM000680.1:g.10382918G>C GRCh37
NC_000018.8:g.10372918G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935143.1:n.919+1568G>C
Search 100 bp 5'
Search 100 bp 3'