ClinVar

NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)

Gene:

FGA:fibrinogen alpha chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 154585943 (on Assembly GRCh38)
• Chr4: 155507095 (on Assembly GRCh37)

Preferred name:

NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)

HGVS:

• NC_000004.12:g.154585943C>A
• NG_008832.1:g.9803G>T
• NM_000508.5:c.1486G>T
• NM_021871.4:c.1486G>TMANE SELECT
• NP_000499.1:p.Asp496Tyr
• NP_068657.1:p.Asp496Tyr
• LRG_557:g.9803G>T
• NC_000004.11:g.155507095C>A
• NM_021871.3:c.1486G>T

This HGVS expression did not pass validation

Protein change:

D496Y

Links:

dbSNP: rs2110809573

NCBI 1000 Genomes Browser:

rs2110809573

Molecular consequence:

• NM_000508.5:c.1486G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021871.4:c.1486G>T - missense variant - [Sequence Ontology: SO:0001583]