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
Location

Chromosome 1:169560701 (forward strand) | View in location tab

Co-located

with COSMIC COSM677256 (C/T) ; HGMD-PUBLIC CM032567

Most severe consequence
Clinical significance

Synonyms

LSDB 17297

This variation has 5 HGVS names - click the plus to show

1:g.169560701C>A
ENST00000367796.3:c.439G>T
ENSP00000356770.3:p.Glu147Ter
ENST00000367797.5:c.439G>T
ENSP00000356771.3:p.Glu147Ter

Variation displays