Variant ID: 1-55529124-C-G

NM_174936.3(PCSK9):c.1946C>G;(p.Ala649Gly)

This variant was identified in 1 publication




Publications:


Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Plos Genetics
Publication Date: 2011-09

Variant appearance in text: PCSK9: A649G
PubMed Link: 21966275
Variant Present in the following documents:
  • pgen.1002260.s008.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1946C>G p.Ala649Gly missense_variant 12/12 -
ENST00000490692.1 n.2492C>G - non_coding_transcript_exon_variant 8/8 -
NM_174936.4 c.1946C>G p.Ala649Gly missense_variant 12/12 -
NR_110451.1 n.1553C>G - non_coding_transcript_exon_variant 10/10 -