Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: 0.48 (A)
Location

Chromosome 9:117808785 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053428

Most severe consequence
Evidence status

This variation has 4 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

9:g.117808785T>A
ENST00000473855.1:n.347A>T
ENST00000345230.3:c.3215-4165A>T
ENST00000542877.1:c.3940A>T
ENSP00000442242.1:p.Ile1314Leu
ENST00000544972.1:c.716A>T
ENSP00000445380.1:p.Ile240Leu
ENST00000346706.3:c.3391A>T
ENSP00000344555.3:p.Ile1131Leu
ENST00000537320.1:c.3215-4165A>T
ENST00000498724.1:n.40-4165A>T
ENST00000341037.4:c.4483A>T
ENSP00000339553.4:p.Ile1495Leu
ENST00000350763.4:c.5029A>T
ENSP00000265131.4:p.Ile1677Leu
ENST00000535648.1:c.3664A>T
ENSP00000438152.1:p.Ile1222Leu
ENST00000476680.1:n.253-4165A>T
ENST00000340094.3:c.3937A>T
ENSP00000344400.3:p.Ile1313Leu
ENST00000423613.2:c.4307-4165A>T

This variation has assays on 5 chips - click the plus to show

Variation displays