Canonical Allele Identifier: CA232397288
Gene: GNB3 HGNC NCBI
dbSNP:
2071057
gnomAD v2:
12:6950052 G / A
gnomAD v3:
12:6840888 G / A
gnomAD v4:
chr12-6840888-G-A
Joint Max Group AF 0.16312672 (EAS)
Genomes Max Group AF 0.16228425 (EAS)
Exomes Max Group AF 0.14919589 (EAS)
MyVariant.info:
GRCh38 chr12:g.6840888G>A
GRCh37 chr12:g.6950052G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6840888G>A , CM000674.2:g.6840888G>A GRCh38
NC_000012.11:g.6950052G>A , CM000674.1:g.6950052G>A GRCh37
NC_000012.10:g.6820313G>A NCBI36
NG_009100.1:g.5678G>A
NG_033740.1:g.17516G>A
NG_009100.2:g.5678G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675241.1:c.-176G>A ENSP00000501677.1:n.-176G>A
ENST00000229264.7:c.-176G>A ENSP00000229264.3:n.-176G>A
ENST00000540458.5:n.935G>A
ENST00000541257.5:c.-30-370G>A ENSP00000442002.1:n.-30-370G>A
ENST00000541978.5:c.-176G>A ENSP00000439753.2:n.-176G>A
NM_001297571.1:c.-176G>A NP_001284500.1:n.-176G>A
NM_002075.3:c.-176G>A NP_002066.1:n.-176G>A
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