ClinVar

NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly)

Gene:

SERPING1:serpin family G member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.1

Genomic location:

• Chr11: 57614496 (on Assembly GRCh38)
• Chr11: 57381969 (on Assembly GRCh37)

Preferred name:

NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly)

HGVS:

• NC_000011.10:g.57614496T>G
• NG_009625.1:g.21943T>G
• NM_000062.3:c.1418T>GMANE SELECT
• NM_001032295.2:c.1418T>G
• NP_000053.2:p.Val473Gly
• NP_000053.2:p.Val473Gly
• NP_001027466.1:p.Val473Gly
• LRG_105t1:c.1418T>G
• LRG_105:g.21943T>G
• LRG_105p1:p.Val473Gly
• NC_000011.9:g.57381969T>G
• NM_000062.2:c.1418T>G
• P05155:p.Val473Gly

This HGVS expression did not pass validation

Protein change:

V473G

Links:

UniProtKB: P05155#VAR_068843; UniProtKB/Swiss-Prot: VAR_068843; dbSNP: rs281875177

NCBI 1000 Genomes Browser:

rs281875177

Molecular consequence:

• NM_000062.3:c.1418T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032295.2:c.1418T>G - missense variant - [Sequence Ontology: SO:0001583]