Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 14:57268786 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM051597

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_050_OTX2_600037_0004, 8843

This variation has 11 HGVS names - click the plus to show

14:g.57268786A>T
ENST00000554845.1:c.561T>A
ENSP00000451357.1:p.Tyr187Ter
ENST00000339475.5:c.561T>A
ENSP00000343819.4:p.Tyr187Ter
ENST00000408990.3:c.537T>A
ENSP00000386185.3:p.Tyr179Ter
ENST00000554559.1:c.*277T>A
ENST00000555006.1:c.537T>A
ENSP00000452336.1:p.Tyr179Ter
ENST00000554788.1:c.*277T>A

Variation displays