Canonical Allele Identifier: CA229981096
Gene:

Linked Data

dbSNP Id: rs551348824
gnomAD v3: 11-116072518-G-A
gnomAD v4: 11-116072518-G-A
MyVariant Identifiers: chr11:g.115943236G>A (hg19) chr11:g.116072518G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072518G>A , CM000673.2:g.116072518G>A GRCh38
NC_000011.9:g.115943236G>A , CM000673.1:g.115943236G>A GRCh37
NC_000011.8:g.115448446G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948055.1:n.192+496C>T
XR_948056.1:n.311-5313C>T
XR_948057.1:n.97+591C>T
XR_001748401.1:n.192+496C>T
XR_948055.2:n.192+496C>T
XR_948056.2:n.314-5313C>T
XR_948057.2:n.97+591C>T
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