Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 21:47571859 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031682

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

21:g.47571859G>A
ENST00000397746.3:c.403C>T
ENSP00000380854.3:p.Arg135Cys
ENST00000359679.2:c.403C>T
ENSP00000352707.2:p.Arg135Cys
ENST00000397743.1:c.403C>T
ENSP00000380851.1:p.Arg135Cys
ENST00000498355.2:n.472C>T
ENST00000291670.5:c.403C>T
ENSP00000291670.5:p.Arg135Cys
ENST00000355384.2:c.403C>T
ENSP00000347545.2:p.Arg135Cys
ENST00000446649.1:n.146+186G>A
ENST00000397748.1:c.403C>T
ENSP00000380856.1:p.Arg135Cys

Variation displays