Original source

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

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

Chromosome 1:113834946 (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.113834946A>G
ENST00000528414.3:c.1693T>C
ENSP00000435176.1:p.Trp565Arg
ENST00000420377.4:c.1858T>C
ENSP00000388229.2:p.Trp620Arg
ENST00000460620.3:c.469-15292T>C
ENST00000484147.3:n.1899T>C
ENST00000525799.1:c.1477T>C
ENSP00000432674.1:p.Trp493Arg
ENST00000359785.7:c.1858T>C
ENSP00000352833.5:p.Trp620Arg
ENST00000532224.3:c.*1136T>C
ENST00000538253.3:c.1786T>C
ENSP00000439372.2:p.Trp596Arg

This variation has assays on 12 chips - click the plus to show

Variation displays