ClinGen Allele Registry
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Canonical Allele Identifier:
CA11987385
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.162656512G>A
GRCh37
chr5:g.162083518G>A
Linked Data - Sequence & Population
gnomAD v2:
5:162083518 G / A
gnomAD v3:
5:162656512 G / A
gnomAD v4:
chr5-162656512-G-A
Joint Max Group AF
0.54361222 (AFR)
Genomes Max Group AF
0.54361222 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7711337
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656512G>A , CM000667.2:g.162656512G>A
GRCh38
NC_000005.9:g.162083518G>A , CM000667.1:g.162083518G>A
GRCh37
NC_000005.8:g.162016096G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3590C>T
Search 100 bp 5'
Search 100 bp 3'