Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 11:17427124 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM107080, CM961360

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9246, NG_008867.1:g.54779G>T_1278134232

HGVS names

This variant has 8 HGVS names - Hide

11:g.17427124C>A
ENST00000527905.5:c.2117G>T
ENSP00000431653.1:p.Gly706Val
ENST00000389817.7:c.2147G>T
ENSP00000374467.3:p.Gly716Val
ENST00000531911.1:n.258G>T
ENST00000302539.8:c.2147G>T
ENSP00000303960.4:p.Gly716Val

About this variant

This variant overlaps 7 transcripts and is associated with 3 phenotypes.

Variant displays