Canonical Allele Identifier: CA152954
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 129144
ClinVar RCV Id: RCV000117131 RCV000255191 RCV000763586 RCV001248908 RCV002345419
dbSNP Id: rs587780345
gnomAD v4: 7-44150004-C-T
MyVariant Identifiers: chr7:g.44189603C>T (hg19) chr7:g.44150004C>T (hg38)
PubMed: PMID:8068341 PMID:8132752 PMID:8433729 PMID:8446612 PMID:10525657 PMID:10754480 PMID:14517956 PMID:15102714 PMID:18056790 PMID:20337973 PMID:21395678 PMID:23771172 PMID:23891399 PMID:25082184 PMID:25306193 PMID:25494859 PMID:25555642
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150004C>T , CM000669.2:g.44150004C>T GRCh38
NC_000007.13:g.44189603C>T , CM000669.1:g.44189603C>T GRCh37
NC_000007.12:g.44156128C>T NCBI36
NG_008847.1:g.44420G>A
NG_008847.2:g.53167G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*542G>A ENSP00000379142.4:n.*542G>A
ENST00000616242.5:c.544G>A ENSP00000482149.2:p.Val182Met
ENST00000682635.1:n.1030G>A
ENST00000345378.7:c.547G>A ENSP00000223366.2:p.Val183Met
ENST00000403799.8:c.544G>A MANE Select ENSP00000384247.3:p.Val182Met
ENST00000671824.1:c.544G>A ENSP00000500264.1:p.Val182Met
ENST00000673284.1:c.544G>A ENSP00000499852.1:p.Val182Met
ENST00000345378.6:c.547G>A ENSP00000223366.2:p.Val183Met
ENST00000395796.7:c.541G>A ENSP00000379142.3:p.Val181Met
ENST00000403799.7:c.544G>A ENSP00000384247.3:p.Val182Met
ENST00000437084.1:c.493G>A ENSP00000402840.1:p.Val165Met
ENST00000616242.4:c.541G>A ENSP00000482149.1:p.Val181Met
NM_000162.3:c.544G>A NP_000153.1:p.Val182Met
NM_033507.1:c.547G>A NP_277042.1:p.Val183Met
NM_033508.1:c.541G>A NP_277043.1:p.Val181Met
NM_000162.4:c.544G>A NP_000153.1:p.Val182Met
NM_001354800.1:c.544G>A NP_001341729.1:p.Val182Met
NM_033507.2:c.547G>A NP_277042.1:p.Val183Met
NM_033508.2:c.541G>A NP_277043.1:p.Val181Met
NM_000162.5:c.544G>A MANE Select NP_000153.1:p.Val182Met
NM_033507.3:c.547G>A NP_277042.1:p.Val183Met
NM_033508.3:c.541G>A NP_277043.1:p.Val181Met
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