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Canonical Allele Identifier:
CA12920824
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.125511281C>T
GRCh37
chr8:g.126523523C>T
Linked Data - Sequence & Population
gnomAD v2:
8:126523523 C / T
gnomAD v3:
8:125511281 C / T
gnomAD v4:
chr8-125511281-C-T
Joint Max Group AF
0.96830209 (EAS)
Genomes Max Group AF
0.96830209 (EAS)
Linked Data - NCBI & NCI
dbSNP:
4360309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125511281C>T , CM000670.2:g.125511281C>T
GRCh38
NC_000008.10:g.126523523C>T , CM000670.1:g.126523523C>T
GRCh37
NC_000008.9:g.126592705C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+37967C>T
Search 100 bp 5'
Search 100 bp 3'