Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 11:64752064 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930631

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15724

HGVS names

This variant has 5 HGVS names - Hide

11:g.64752064T>G
ENST00000164139.3:c.1628A>C
ENSP00000164139.3:p.Lys543Thr
ENST00000377432.7:c.1364A>C
ENSP00000366650.3:p.Lys455Thr

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays