ClinGen Allele Registry
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Canonical Allele Identifier:
CA14000989
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr14:g.20489274T>C
GRCh37
chr14:g.20957433T>C
Linked Data - Sequence & Population
gnomAD v2:
14:20957433 T / C
gnomAD v3:
14:20489274 T / C
gnomAD v4:
chr14-20489274-T-C
Joint Max Group AF
0.20865863 (MID)
Genomes Max Group AF
0.18168944 (NFE)
Linked Data - NCBI & NCI
dbSNP:
12147450
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.20489274T>C , CM000676.2:g.20489274T>C
GRCh38
NC_000014.8:g.20957433T>C , CM000676.1:g.20957433T>C
GRCh37
NC_000014.7:g.20027273T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'