Canonical Allele Identifier: CA1110521710
Gene:

Linked Data

dbSNP Id: rs4240624
gnomAD v3: 8-9326721-G-C
gnomAD v4: 8-9326721-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9326721G>C , CM000670.2:g.9326721G>C GRCh38
NC_000008.10:g.9184231G>C , CM000670.1:g.9184231G>C GRCh37
NC_000008.9:g.9221641G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_040039.1:n.765+418G>C
Search 100 bp 5'
Search 100 bp 3'