Variant ID: 1-55525207-G-A

NM_174936.3(PCSK9):c.1552G>A;(p.Glu518Lys)

This variant was identified in 1 publication




Publications:


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1552G>A p.Glu518Lys missense_variant 10/12 -
ENST00000490692.1 n.2227+887G>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*99G>A - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1552G>A p.Glu518Lys missense_variant 10/12 -
NR_110451.1 n.1159G>A - non_coding_transcript_exon_variant 8/10 -