Canonical Allele Identifier: CA602083536
Gene:

Linked Data

dbSNP Id: rs1219692575
gnomAD v2: 11-115943374-G-A
gnomAD v3: 11-116072656-G-A
gnomAD v4: 11-116072656-G-A
MyVariant Identifiers: chr11:g.115943374G>A (hg19) chr11:g.116072656G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072656G>A , CM000673.2:g.116072656G>A GRCh38
NC_000011.9:g.115943374G>A , CM000673.1:g.115943374G>A GRCh37
NC_000011.8:g.115448584G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+358C>T
XR_948056.1:n.311-5451C>T
XR_948057.1:n.97+453C>T
XR_001748401.1:n.192+358C>T
XR_948055.2:n.192+358C>T
XR_948056.2:n.314-5451C>T
XR_948057.2:n.97+453C>T
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