ClinVar

NM_198291.3(SRC):c.1474G>A (p.Glu492Lys)

Gene:

SRC:SRC proto-oncogene, non-receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 37403242 (on Assembly GRCh38)
• Chr20: 36031645 (on Assembly GRCh37)

Preferred name:

NM_198291.3(SRC):c.1474G>A (p.Glu492Lys)

HGVS:

• NC_000020.11:g.37403242G>A
• NG_023033.1:g.63558G>A
• NM_005417.3:c.1474G>A
• NM_005417.5:c.1474G>A
• NM_198291.3:c.1474G>AMANE SELECT
• NP_005408.1:p.Glu492Lys
• NP_938033.1:p.Glu492Lys
• LRG_1018:g.63558G>A
• NC_000020.10:g.36031645G>A

This HGVS expression did not pass validation

Protein change:

E492K

Links:

dbSNP: rs367543248

NCBI 1000 Genomes Browser:

rs367543248

Molecular consequence:

• NM_005417.5:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198291.3:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]