ClinGen Allele Registry
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Canonical Allele Identifier:
CA16437056
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.13982130T>G
GRCh37
chr12:g.14135064T>G
Linked Data - Sequence & Population
gnomAD v2:
12:14135064 T / G
gnomAD v3:
12:13982130 T / G
gnomAD v4:
chr12-13982130-T-G
Joint Max Group AF
0.96492764 (NFE)
Genomes Max Group AF
0.96492764 (NFE)
Linked Data - NCBI & NCI
dbSNP:
3764028
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13982130T>G , CM000674.2:g.13982130T>G
GRCh38
NC_000012.11:g.14135064T>G , CM000674.1:g.14135064T>G
GRCh37
NC_000012.10:g.14026331T>G
NCBI36
NG_031854.1:g.2959A>C
NG_031854.2:g.4883A>C
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