ClinGen Allele Registry
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Canonical Allele Identifier:
CA12881894
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.79191197T>C
GRCh37
chr8:g.80103432T>C
Linked Data - Sequence & Population
gnomAD v2:
8:80103432 T / C
gnomAD v3:
8:79191197 T / C
gnomAD v4:
chr8-79191197-T-C
Joint Max Group AF
0.59334295 (AFR)
Genomes Max Group AF
0.59334295 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10448044
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191197T>C , CM000670.2:g.79191197T>C
GRCh38
NC_000008.10:g.80103432T>C , CM000670.1:g.80103432T>C
GRCh37
NC_000008.9:g.80265987T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+826T>C
Search 100 bp 5'
Search 100 bp 3'