Canonical Allele Identifier: CA13701492
Gene:

Linked Data

dbSNP Id: rs1558744
gnomAD v2: 12-68504592-G-A
gnomAD v3: 12-68110812-G-A
gnomAD v4: 12-68110812-G-A
MyVariant Identifiers: chr12:g.68504592G>A (hg19) chr12:g.68110812G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68110812G>A , CM000674.2:g.68110812G>A GRCh38
NC_000012.11:g.68504592G>A , CM000674.1:g.68504592G>A GRCh37
NC_000012.10:g.66790859G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749191.1:n.4637+7547C>T
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