Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 14:20474870 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920509 ; PhenCode NPbase_D0064:g.6461A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4319, 2010_April_001_035_NP_164050_0003

This variant has 14 HGVS names - click the plus to show

14:g.20474870A>G
ENST00000557229.5:n.699A>G
ENST00000553591.1:c.500A>G
ENSP00000452421.1:p.Asp167Gly
ENST00000554678.1:n.411T>C
ENST00000554065.1:c.146A>G
ENSP00000451108.1:p.Asp49Gly
ENST00000361505.9:c.383A>G
ENSP00000354532.5:p.Asp128Gly
ENST00000554056.5:n.691A>G
ENST00000556754.1:n.1487A>G
LRG_91:g.10488A>G
LRG_91t1:c.383A>G
LRG_91p1:p.Asp128Gly

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays