Canonical Allele Identifier: CA13734550
Gene:

Linked Data

dbSNP Id: rs17287293
gnomAD v2: 12-24770878-A-G
gnomAD v3: 12-24617944-A-G
gnomAD v4: 12-24617944-A-G
MyVariant Identifiers: chr12:g.24770878A>G (hg19) chr12:g.24617944A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24617944A>G , CM000674.2:g.24617944A>G GRCh38
NC_000012.11:g.24770878A>G , CM000674.1:g.24770878A>G GRCh37
NC_000012.10:g.24662145A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001749046.1:n.425-134T>C
Search 100 bp 5'
Search 100 bp 3'