ClinGen Allele Registry
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Canonical Allele Identifier:
CA129772698
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.148825046G>C
GRCh37
chr5:g.148204609G>C
Linked Data - Sequence & Population
gnomAD v2:
5:148204609 G / C
gnomAD v3:
5:148825046 G / C
gnomAD v4:
chr5-148825046-G-C
Joint Max Group AF
0.00182529 (AFR)
Genomes Max Group AF
0.00182529 (AFR)
Linked Data - NCBI & NCI
dbSNP:
34623097
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148825046G>C , CM000667.2:g.148825046G>C
GRCh38
NC_000005.9:g.148204609G>C , CM000667.1:g.148204609G>C
GRCh37
NC_000005.8:g.148184802G>C
NCBI36
NG_016421.1:g.3454G>C
NG_016421.2:g.3454G>C
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