ClinGen Allele Registry
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Canonical Allele Identifier:
CA603093051
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.6126464C>T
GRCh37
chr12:g.6235630C>T
Linked Data - Sequence & Population
gnomAD v2:
12:6235630 C / T
gnomAD v3:
12:6126464 C / T
gnomAD v4:
chr12-6126464-C-T
Joint Max Group AF
0.00001221 (NFE)
Genomes Max Group AF
0.00001221 (NFE)
Linked Data - NCBI & NCI
dbSNP:
7966230
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6126464C>T , CM000674.2:g.6126464C>T
GRCh38
NC_000012.11:g.6235630C>T , CM000674.1:g.6235630C>T
GRCh37
NC_000012.10:g.6105891C>T
NCBI36
NG_009072.1:g.3207G>A
NG_009072.2:g.3207G>A
Search 100 bp 5'
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