Canonical Allele Identifier: CA1098940687
Gene:

Linked Data

dbSNP Id: rs1803285696
gnomAD v3: 7-17957849-C-G
gnomAD v4: 7-17957849-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957849C>G , CM000669.2:g.17957849C>G GRCh38
NC_000007.13:g.17997472C>G , CM000669.1:g.17997472C>G GRCh37
NC_000007.12:g.17963997C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927078.1:n.271-821C>G
Search 100 bp 5'
Search 100 bp 3'