Canonical Allele Identifier: CA1098940689
Gene:

Linked Data

dbSNP Id: rs1803285787
gnomAD v3: 7-17957858-G-A
gnomAD v4: 7-17957858-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17957858G>A , CM000669.2:g.17957858G>A GRCh38
NC_000007.13:g.17997481G>A , CM000669.1:g.17997481G>A GRCh37
NC_000007.12:g.17964006G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927078.1:n.271-812G>A
Search 100 bp 5'
Search 100 bp 3'