Canonical Allele Identifier: CA240383566
Gene:

Linked Data

dbSNP Id: rs930176989
gnomAD v3: 12-84951874-G-A
gnomAD v4: 12-84951874-G-A
MyVariant Identifiers: chr12:g.85345653G>A (hg19) chr12:g.84951874G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84951874G>A , CM000674.2:g.84951874G>A GRCh38
NC_000012.11:g.85345653G>A , CM000674.1:g.85345653G>A GRCh37
NC_000012.10:g.83869784G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945152.1:n.316+30560G>A
XR_945153.1:n.301+13410G>A
XR_945154.1:n.174+37012G>A
XR_945155.1:n.330+30560G>A
XR_945152.2:n.316+30560G>A
XR_945154.2:n.174+37012G>A
XR_945155.2:n.888+30560G>A
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