Canonical Allele Identifier: CA13691202
Gene:
MyVariant.info:
GRCh38 chr12:g.76615280A>G
GRCh37 chr12:g.77009060A>G
gnomAD v2:
12:77009060 A / G
gnomAD v3:
12:76615280 A / G
gnomAD v4:
chr12-76615280-A-G
Joint Max Group AF 0.61532576 (SAS)
Genomes Max Group AF 0.61532576 (SAS)
Exomes Max Group AF 0.55903654 (NFE)
dbSNP:
2669010
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76615280A>G , CM000674.2:g.76615280A>G GRCh38
NC_000012.11:g.77009060A>G , CM000674.1:g.77009060A>G GRCh37
NC_000012.10:g.75533191A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945113.1:n.513-23A>G
XR_001749220.1:n.477-23A>G
XR_945113.3:n.532-23A>G
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