Canonical Allele Identifier: CA602083504
Gene:

Linked Data

dbSNP Id: rs1222196492
gnomAD v2: 11-115943183-C-G
gnomAD v3: 11-116072465-C-G
gnomAD v4: 11-116072465-C-G
MyVariant Identifiers: chr11:g.115943183C>G (hg19) chr11:g.116072465C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072465C>G , CM000673.2:g.116072465C>G GRCh38
NC_000011.9:g.115943183C>G , CM000673.1:g.115943183C>G GRCh37
NC_000011.8:g.115448393C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948055.1:n.192+549G>C
XR_948056.1:n.311-5260G>C
XR_948057.1:n.97+644G>C
XR_001748401.1:n.192+549G>C
XR_948055.2:n.192+549G>C
XR_948056.2:n.314-5260G>C
XR_948057.2:n.97+644G>C
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