Canonical Allele Identifier: CA1102732583
Gene:

Linked Data

dbSNP Id: rs1788209311
gnomAD v3: 7-69147014-G-A
gnomAD v4: 7-69147014-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.69147014G>A , CM000669.2:g.69147014G>A GRCh38
NC_000007.13:g.68612001G>A , CM000669.1:g.68612001G>A GRCh37
NC_000007.12:g.68249937G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927647.1:n.88-888C>T
Search 100 bp 5'
Search 100 bp 3'