Original source

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

Alleles
T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.01 (T)
Location

Chromosome 1:169519049 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM940389

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

1:g.169519049T>C
ENST00000367796.3:c.1601A>G
ENSP00000356770.3:p.Gln534Arg
ENST00000546081.1:c.*187A>G
ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg

This variation has assays on 6 chips - click the plus to show

Variation displays