ClinVar

NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr)

Gene:

PCSK9:proprotein convertase subtilisin/kexin type 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 55039913 (on Assembly GRCh38)
• Chr1: 55505586 (on Assembly GRCh37)

Preferred name:

NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr)

HGVS:

• NC_000001.11:g.55039913G>A
• NG_009061.1:g.5367G>A
• NM_174936.4:c.76G>AMANE SELECT
• NP_777596.2:p.Ala26Thr
• NP_777596.2:p.Ala26Thr
• LRG_275t1:c.76G>A
• LRG_275:g.5367G>A
• LRG_275p1:p.Ala26Thr
• NC_000001.10:g.55505586G>A
• NM_174936.3:c.76G>A

This HGVS expression did not pass validation

Protein change:

A26T

Links:

dbSNP: rs1553135400

NCBI 1000 Genomes Browser:

rs1553135400

Molecular consequence:

• NM_174936.4:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]