ClinGen Allele Registry
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Canonical Allele Identifier:
CA16271062
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.81483392T>C
GRCh37
chr6:g.82193109T>C
Linked Data - Sequence & Population
gnomAD v2:
6:82193109 T / C
gnomAD v3:
6:81483392 T / C
gnomAD v4:
chr6-81483392-T-C
Joint Max Group AF
0.23670657 (AMR)
Genomes Max Group AF
0.23670657 (AMR)
Linked Data - NCBI & NCI
dbSNP:
17530068
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.81483392T>C , CM000668.2:g.81483392T>C
GRCh38
NC_000006.11:g.82193109T>C , CM000668.1:g.82193109T>C
GRCh37
NC_000006.10:g.82249828T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001744218.1:n.1402+8099A>G
Search 100 bp 5'
Search 100 bp 3'