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 11:64753931 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15727

This variant has 6 HGVS names - click the plus to show

11:g.64753931A>G
ENST00000164139.3:c.1187T>C
ENSP00000164139.3:p.Leu396Pro
ENST00000377432.7:c.923T>C
ENSP00000366650.3:p.Leu308Pro
ENST00000460413.1:n.264T>C

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays