Canonical Allele Identifier: CA13595592
Gene:

Linked Data

dbSNP Id: rs1545843
gnomAD v2: 12-84564068-G-A
gnomAD v3: 12-84170289-G-A
gnomAD v4: 12-84170289-G-A
MyVariant Identifiers: chr12:g.84564068G>A (hg19) chr12:g.84170289G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.84170289G>A , CM000674.2:g.84170289G>A GRCh38
NC_000012.11:g.84564068G>A , CM000674.1:g.84564068G>A GRCh37
NC_000012.10:g.83088199G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749234.1:n.127+16177C>T
XR_001749235.1:n.127+16177C>T
Search 100 bp 5'
Search 100 bp 3'