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 18:52896219 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072076

Most severe consequence
Clinical significance

Synonyms

LSDB 10926

This variation has 46 HGVS names - click the plus to show

18:g.52896219G>A
ENST00000568740.1:c.1651C>T
ENSP00000455346.1:p.Arg551Trp
ENST00000570177.2:c.1336C>T
ENSP00000454647.1:p.Arg446Trp
ENST00000565018.2:c.1738C>T
ENSP00000455984.1:p.Arg580Trp
ENST00000566279.1:c.1558C>T
ENSP00000456125.1:p.Arg520Trp
ENST00000568673.1:c.1666C>T
ENSP00000455135.1:p.Arg556Trp
ENST00000537578.1:c.1666C>T
ENSP00000440731.1:p.Arg556Trp
ENST00000544241.2:c.1525C>T
ENSP00000441562.2:p.Arg509Trp
ENST00000562680.1:n.4890C>T
ENST00000398339.1:c.2044C>T
ENSP00000381382.1:p.Arg682Trp
ENST00000564403.2:c.1756C>T
ENSP00000457263.1:p.Arg586Trp
ENST00000543082.1:c.1600C>T
ENSP00000439656.1:p.Arg534Trp
ENST00000570287.2:c.1246C>T
ENSP00000455763.1:p.Arg416Trp
ENST00000537856.3:c.1336C>T
ENSP00000439827.2:p.Arg446Trp
ENST00000566286.1:c.1717C>T
ENSP00000455418.2:p.Arg573Trp
ENST00000567880.1:c.1546C>T
ENSP00000454366.1:p.Arg516Trp
ENST00000564228.1:c.1513C>T
ENSP00000455261.1:p.Arg505Trp
ENST00000354452.3:c.1738C>T
ENSP00000346440.3:p.Arg580Trp
ENST00000540999.1:c.1654C>T
ENSP00000445202.1:p.Arg552Trp
ENST00000561831.3:c.1246C>T
ENSP00000457765.1:p.Arg416Trp
ENST00000564999.1:c.1726C>T
ENSP00000457649.1:p.Arg576Trp
ENST00000457482.3:c.1258C>T
ENSP00000409447.2:p.Arg420Trp
ENST00000356073.4:c.1726C>T
ENSP00000348374.4:p.Arg576Trp
ENST00000561992.1:c.1336C>T
ENSP00000455179.1:p.Arg446Trp

Variation displays