ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349030
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28340125G>A
GRCh37
chr5:g.28340232G>A
Linked Data - Sequence & Population
gnomAD v2:
5:28340232 G / A
gnomAD v3:
5:28340125 G / A
gnomAD v4:
chr5-28340125-G-A
Joint Max Group AF
0.98242271 (AFR)
Genomes Max Group AF
0.98242271 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11949321
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28340125G>A , CM000667.2:g.28340125G>A
GRCh38
NC_000005.9:g.28340232G>A , CM000667.1:g.28340232G>A
GRCh37
NC_000005.8:g.28375989G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'