Canonical Allele Identifier: CA692802654
Gene:

Linked Data

dbSNP Id: rs1224865542
gnomAD v3: 12-84952138-T-C
gnomAD v4: 12-84952138-T-C
MyVariant Identifiers: chr12:g.85345917T>C (hg19) chr12:g.84952138T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84952138T>C , CM000674.2:g.84952138T>C GRCh38
NC_000012.11:g.85345917T>C , CM000674.1:g.85345917T>C GRCh37
NC_000012.10:g.83870048T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30824T>C
XR_945153.1:n.301+13674T>C
XR_945154.1:n.175-36804T>C
XR_945155.1:n.330+30824T>C
XR_945152.2:n.316+30824T>C
XR_945154.2:n.175-36804T>C
XR_945155.2:n.888+30824T>C
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