ClinGen Allele Registry
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Canonical Allele Identifier:
CA86016260
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.152112520A>G
GRCh37
chr3:g.151830309A>G
Linked Data - Sequence & Population
gnomAD v2:
3:151830309 A / G
gnomAD v3:
3:152112520 A / G
gnomAD v4:
chr3-152112520-A-G
Joint Max Group AF
0.22157682 (NFE)
Genomes Max Group AF
0.22157682 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11712066
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.152112520A>G , CM000665.2:g.152112520A>G
GRCh38
NC_000003.11:g.151830309A>G , CM000665.1:g.151830309A>G
GRCh37
NC_000003.10:g.153312999A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924587.1:n.533-38806T>C
Search 100 bp 5'
Search 100 bp 3'