ClinGen Allele Registry
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Canonical Allele Identifier:
CA120872307
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.75332189G>C
GRCh37
chr5:g.74628014G>C
Linked Data - Sequence & Population
gnomAD v2:
5:74628014 G / C
gnomAD v3:
5:75332189 G / C
gnomAD v4:
chr5-75332189-G-C
Joint Max Group AF
0.40973951 (SAS)
Genomes Max Group AF
0.40973951 (SAS)
Linked Data - NCBI & NCI
dbSNP:
3931914
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.75332189G>C , CM000667.2:g.75332189G>C
GRCh38
NC_000005.9:g.74628014G>C , CM000667.1:g.74628014G>C
GRCh37
NC_000005.8:g.74663770G>C
NCBI36
NG_011449.1:g.22G>C
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