ClinGen Allele Registry
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Canonical Allele Identifier:
CA11518753
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.186612299T>A
GRCh37
chr3:g.186330088T>A
Linked Data - Sequence & Population
gnomAD v2:
3:186330088 T / A
gnomAD v3:
3:186612299 T / A
gnomAD v4:
chr3-186612299-T-A
Joint Max Group AF
0.82194866 (MID)
Genomes Max Group AF
0.80931829 (EAS)
Linked Data - NCBI & NCI
dbSNP:
2248690
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186612299T>A , CM000665.2:g.186612299T>A
GRCh38
NC_000003.11:g.186330088T>A , CM000665.1:g.186330088T>A
GRCh37
NC_000003.10:g.187812782T>A
NCBI36
NG_011436.1:g.4239T>A
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