Canonical Allele Identifier: CA383671807

Gene: GNB3

Linked Data

• ClinVar Variation Id: 3100602
• ClinVar RCV Id: RCV004395479
• gnomAD v4: 12-6843055-T-C
• MyVariant Identifiers: chr12:g.6952219T>C (hg19) ; chr12:g.6843055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6843055T>C , CM000674.2:g.6843055T>C	GRCh38
NC_000012.11:g.6952219T>C , CM000674.1:g.6952219T>C	GRCh37
NC_000012.10:g.6822480T>C	NCBI36
NG_009100.1:g.7845T>C
NG_009100.2:g.7845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.182T>C MANE Select	ENSP00000229264.3:p.Met61Thr
ENST00000229264.7:c.182T>C	ENSP00000229264.3:p.Met61Thr
ENST00000435982.6:c.182T>C	ENSP00000414734.2:p.Met61Thr
ENST00000537035.1:c.182T>C	ENSP00000445967.1:p.Met61Thr
ENST00000539127.5:c.*202T>C	ENSP00000444325.1:n.*202T>C
ENST00000540458.5:n.1533T>C
ENST00000541257.5:c.182T>C	ENSP00000442002.1:p.Met61Thr
ENST00000541978.5:c.182T>C	ENSP00000439753.2:p.Met61Thr
NM_001297571.1:c.182T>C	NP_001284500.1:p.Met61Thr
NM_002075.3:c.182T>C	NP_002066.1:p.Met61Thr
XM_011520953.1:c.182T>C	XP_011519255.1:p.Met61Thr
XM_011520954.1:c.182T>C	XP_011519256.1:p.Met61Thr
XM_011520953.3:c.182T>C	XP_011519255.1:p.Met61Thr
NM_001297571.2:c.182T>C	NP_001284500.1:p.Met61Thr
NM_002075.4:c.182T>C MANE Select	NP_002066.1:p.Met61Thr