Canonical Allele Identifier: CA13429194
Gene:

Linked Data

ClinVar Variation Id: 1165389
ClinVar RCV Id: RCV001512458
dbSNP Id: rs12364283
gnomAD v2: 11-113346955-A-G
gnomAD v3: 11-113476233-A-G
gnomAD v4: 11-113476233-A-G
MyVariant Identifiers: chr11:g.113346955A>G (hg19) chr11:g.113476233A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113476233A>G , CM000673.2:g.113476233A>G GRCh38
NC_000011.9:g.113346955A>G , CM000673.1:g.113346955A>G GRCh37
NC_000011.8:g.112852165A>G NCBI36
NG_008841.1:g.4047T>C

Transcript Alleles

HGVS Amino-acid change
XR_948023.1:n.205-380T>C
XR_948024.2:n.589-380T>C
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