ClinGen Allele Registry
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Canonical Allele Identifier:
CA12025399
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.42375141A>C
GRCh37
chr5:g.42375243A>C
Linked Data - Sequence & Population
gnomAD v2:
5:42375243 A / C
gnomAD v3:
5:42375141 A / C
gnomAD v4:
chr5-42375141-A-C
Joint Max Group AF
0.86570643 (EAS)
Genomes Max Group AF
0.86570643 (EAS)
Linked Data - NCBI & NCI
dbSNP:
979233
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.42375141A>C , CM000667.2:g.42375141A>C
GRCh38
NC_000005.9:g.42375243A>C , CM000667.1:g.42375243A>C
GRCh37
NC_000005.8:g.42411000A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'