ClinGen Allele Registry
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Canonical Allele Identifier:
CA141288889
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.71067268G>A
GRCh37
chr6:g.71776971G>A
Linked Data - Sequence & Population
gnomAD v2:
6:71776971 G / A
gnomAD v3:
6:71067268 G / A
gnomAD v4:
chr6-71067268-G-A
Joint Max Group AF
0.13507661 (AFR)
Genomes Max Group AF
0.13507661 (AFR)
Linked Data - NCBI & NCI
dbSNP:
11968814
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.71067268G>A , CM000668.2:g.71067268G>A
GRCh38
NC_000006.11:g.71776971G>A , CM000668.1:g.71776971G>A
GRCh37
NC_000006.10:g.71833692G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942677.1:n.36+7653G>A
Search 100 bp 5'
Search 100 bp 3'