Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 14:56802340 (forward strand) | View in location tab

Co-located

with COSMIC COSM257656 (G/A) ; HGMD-PUBLIC CM104945, CM051593

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_049_OTX2_600037_0002, 8841

This variation has 13 HGVS names - click the plus to show

14:g.56802340G>C
ENST00000554845.1:c.289C>G
ENSP00000451357.1:p.Arg97Gly
ENST00000554559.2:c.*5C>G
ENST00000555804.1:c.265C>G
ENSP00000451272.1:p.Arg89Gly
ENST00000339475.6:c.289C>G
ENSP00000343819.4:p.Arg97Gly
ENST00000555006.2:c.265C>G
ENSP00000452336.1:p.Arg89Gly
ENST00000554788.2:c.*5C>G
ENST00000408990.4:c.265C>G
ENSP00000386185.3:p.Arg89Gly

Variation displays