Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 21:47570043 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031683

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14124

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

21:g.47570043C>G
ENST00000397746.3:c.896G>C
ENSP00000380854.3:p.Arg299Pro
ENST00000359679.2:c.896G>C
ENSP00000352707.2:p.Arg299Pro
ENST00000397743.1:c.896G>C
ENSP00000380851.1:p.Arg299Pro
ENST00000498355.2:n.965G>C
ENST00000291670.5:c.896G>C
ENSP00000291670.5:p.Arg299Pro
ENST00000355384.2:c.896G>C
ENSP00000347545.2:p.Arg299Pro
ENST00000397748.1:c.896G>C
ENSP00000380856.1:p.Arg299Pro

Variation displays