Canonical Allele Identifier: CA2603062606
Gene:

Linked Data

dbSNP Id: rs1222196492
gnomAD v3: 11-116072465-C-A
gnomAD v4: 11-116072465-C-A
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Genomic Alleles

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

Transcript Alleles

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