ClinGen Allele Registry
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Canonical Allele Identifier:
CA214154327
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.119206827T>C
GRCh37
chr10:g.120966339T>C
Linked Data - Sequence & Population
gnomAD v2:
10:120966339 T / C
gnomAD v3:
10:119206827 T / C
gnomAD v4:
chr10-119206827-T-C
Joint Max Group AF
0.99353301 (NFE)
Genomes Max Group AF
0.99353301 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1397615
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.119206827T>C , CM000672.2:g.119206827T>C
GRCh38
NC_000010.10:g.120966339T>C , CM000672.1:g.120966339T>C
GRCh37
NC_000010.9:g.120956329T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011540456.1:c.521A>G
XP_011538758.1:p.Gln174Arg
Search 100 bp 5'
Search 100 bp 3'