Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome 1:55063542 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM054801

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15205, 2009_August_001_214_PCSK9_607786_0005

This variation has 7 HGVS names - click the plus to show

1:g.55063542C>A
ENST00000490692.1:n.2583C>A
ENST00000302118.5:c.2037C>A
ENSP00000303208.5:p.Cys679Ter
LRG_275:g.28996C>A
LRG_275t1.1:c.2037C>A
LRG_275p1.1:p.Cys679Ter

This variation has assays on 4 chips - click the plus to show

Variation displays