Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 18:21119357 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM015186, CM020045

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15114

This variation has 8 HGVS names - click the plus to show

18:g.21119357C>T
ENST00000591075.1:n.506G>A
ENST00000269228.5:c.2873G>A
ENSP00000269228.4:p.Arg958Gln
ENST00000412552.2:c.1919G>A
ENSP00000408606.2:p.Arg640Gln
ENST00000591051.1:c.1951G>A
ENSP00000467636.1:p.Arg651Gln

Variation displays