ClinGen Allele Registry
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Canonical Allele Identifier:
CA159497695
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.54715680T>C
GRCh37
chr7:g.54783373T>C
Linked Data - Sequence & Population
gnomAD v2:
7:54783373 T / C
gnomAD v3:
7:54715680 T / C
gnomAD v4:
chr7-54715680-T-C
Joint Max Group AF
0.49560799 (SAS)
Genomes Max Group AF
0.49560799 (SAS)
Linked Data - NCBI & NCI
dbSNP:
6946131
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.54715680T>C , CM000669.2:g.54715680T>C
GRCh38
NC_000007.13:g.54783373T>C , CM000669.1:g.54783373T>C
GRCh37
NC_000007.12:g.54750867T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'