ClinGen Allele Registry
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Canonical Allele Identifier:
CA13719448
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.3599443G>A
GRCh37
chr12:g.3708609G>A
Linked Data - Sequence & Population
gnomAD v2:
12:3708609 G / A
gnomAD v3:
12:3599443 G / A
gnomAD v4:
chr12-3599443-G-A
Joint Max Group AF
0.47289134 (EAS)
Genomes Max Group AF
0.47289134 (EAS)
Linked Data - NCBI & NCI
dbSNP:
17780102
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.3599443G>A , CM000674.2:g.3599443G>A
GRCh38
NC_000012.11:g.3708609G>A , CM000674.1:g.3708609G>A
GRCh37
NC_000012.10:g.3578870G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'