ClinVar

NM_000162.5(GCK):c.762T>A (p.Asn254Lys)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147751 (on Assembly GRCh38)
• Chr7: 44187350 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.762T>A (p.Asn254Lys)

HGVS:

• NC_000007.14:g.44147751A>T
• NG_008847.2:g.55420T>A
• NM_000162.5:c.762T>AMANE SELECT
• NM_001354800.1:c.762T>A
• NM_033507.3:c.765T>A
• NM_033508.3:c.759T>A
• NP_000153.1:p.Asn254Lys
• NP_001341729.1:p.Asn254Lys
• NP_277042.1:p.Asn255Lys
• NP_277043.1:p.Asn253Lys
• LRG_1074t1:c.762T>A
• LRG_1074t2:c.765T>A
• LRG_1074:g.55420T>A
• LRG_1074p1:p.Asn254Lys
• LRG_1074p2:p.Asn255Lys
• NC_000007.13:g.44187350A>T
• NC_000007.13:g.44187350A>T
• NM_000162.3:c.762T>A

This HGVS expression did not pass validation

Protein change:

N253K

Links:

dbSNP: rs1554335141

NCBI 1000 Genomes Browser:

rs1554335141

Molecular consequence:

• NM_000162.5:c.762T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354800.1:c.762T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033507.3:c.765T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033508.3:c.759T>A - missense variant - [Sequence Ontology: SO:0001583]