Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.04 (A)
Location

Chromosome 1:114377568 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041826

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

1:g.114377568A>G
ENST00000528414.1:c.1693T>C
ENSP00000435176.1:p.Trp565Arg
ENST00000420377.2:c.1858T>C
ENSP00000388229.2:p.Trp620Arg
ENST00000484147.1:n.1899T>C
ENST00000359785.5:c.1858T>C
ENSP00000352833.5:p.Trp620Arg
ENST00000532224.1:c.*1136T>C
ENST00000460620.1:c.469-15292T>C
ENST00000525799.1:c.1477T>C
ENSP00000432674.1:p.Trp493Arg
ENST00000538253.1:c.1126T>C
ENSP00000439372.1:p.Trp376Arg

This variation has assays on 11 chips - click the plus to show

Variation displays