Canonical Allele Identifier: CA15232165
Gene: GSK3B HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120094435A>G
GRCh37 chr3:g.119813282A>G
gnomAD v2:
3:119813282 A / G
gnomAD v3:
3:120094435 A / G
gnomAD v4:
chr3-120094435-A-G
Joint Max Group AF 0.84814555 (AFR)
Genomes Max Group AF 0.84706178 (AFR)
Exomes Max Group AF 0.83900331 (AFR)
ClinVar RCV:
RCV001669133
ClinVar Variation:
1258187
dbSNP:
334558
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120094435A>G , CM000665.2:g.120094435A>G GRCh38
NC_000003.11:g.119813282A>G , CM000665.1:g.119813282A>G GRCh37
NC_000003.10:g.121295972A>G NCBI36
NG_012922.1:g.4983T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264235.13:c.-1001T>C MANE Select ENSP00000264235.9:n.-1001T>C
ENST00000677034.1:c.-1001T>C ENSP00000504055.1:n.-1001T>C
ENST00000677338.1:c.-160+531T>C ENSP00000503497.1:n.-160+531T>C
ENST00000677903.1:c.-160+108T>C ENSP00000503112.1:n.-160+108T>C
XR_002959518.1:n.1389T>C
NM_001146156.2:c.-1001T>C MANE Select NP_001139628.1:n.-1001T>C
NM_001354596.2:c.-1001T>C NP_001341525.1:n.-1001T>C
NM_002093.4:c.-1001T>C NP_002084.2:n.-1001T>C
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