ClinGen Allele Registry
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Canonical Allele Identifier:
CA14663660
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.48711213T>C
GRCh37
chr19:g.49214470T>C
Linked Data - Sequence & Population
gnomAD v2:
19:49214470 T / C
gnomAD v3:
19:48711213 T / C
gnomAD v4:
chr19-48711213-T-C
Joint Max Group AF
0.82561066 (EAS)
Genomes Max Group AF
0.82561066 (EAS)
Linked Data - NCBI & NCI
dbSNP:
281380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.48711213T>C , CM000681.2:g.48711213T>C
GRCh38
NC_000019.9:g.49214470T>C , CM000681.1:g.49214470T>C
GRCh37
NC_000019.8:g.53906282T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'