Original source

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

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

Chromosome 12:11839202 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 9365

This variation has 8 HGVS names - click the plus to show

12:g.11839202G>T
ENST00000396373.7:c.226G>T
ENSP00000379658.3:p.Glu76Ter
ENST00000545027.1:c.142G>T
ENSP00000441463.1:p.Glu48Ter
LRG_609:g.194349G>T
LRG_609t1:c.226G>T
LRG_609p1:p.Glu76Ter

About this variant

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

Variation displays