ClinGen Allele Registry
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Canonical Allele Identifier:
CA12405532
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.131955465T>C
GRCh37
chr6:g.132276605T>C
Linked Data - Sequence & Population
gnomAD v2:
6:132276605 T / C
gnomAD v3:
6:131955465 T / C
gnomAD v4:
chr6-131955465-T-C
Joint Max Group AF
0.31120101 (MID)
Genomes Max Group AF
0.28699167 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11966728
2113430218
2113430222
2113430237
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131955465T>C , CM000668.2:g.131955465T>C
GRCh38
NC_000006.11:g.132276605T>C , CM000668.1:g.132276605T>C
GRCh37
NC_000006.10:g.132318298T>C
NCBI36
NG_016131.1:g.914A>G
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