Original source

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

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

Chromosome 18:55254694 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072074

Most severe consequence
Clinical significance

Synonyms

LSDB 10928

This variation has 57 HGVS names - click the plus to show

18:g.55254694G>A
ENST00000626466.1:n.188C>T
ENST00000565018.5:c.901C>T
ENSP00000455984.2:p.Arg301Ter
ENST00000568673.4:c.1081C>T
ENSP00000455135.1:p.Arg361Ter
ENST00000566279.4:c.973C>T
ENSP00000456125.1:p.Arg325Ter
ENST00000537578.4:c.1081C>T
ENSP00000440731.1:p.Arg361Ter
ENST00000629387.1:c.1153C>T
ENSP00000486670.1:p.Arg385Ter
ENST00000562680.4:n.1244C>T
ENST00000398339.4:c.1459C>T
ENSP00000381382.1:p.Arg487Ter
ENST00000543082.4:c.1027C>T
ENSP00000439656.1:p.Arg343Ter
ENST00000564228.4:c.940C>T
ENSP00000455261.1:p.Arg314Ter
ENST00000354452.6:c.1153C>T
ENSP00000346440.3:p.Arg385Ter
ENST00000540999.4:c.1081C>T
ENSP00000445202.1:p.Arg361Ter
ENST00000561831.6:c.673C>T
ENSP00000457765.1:p.Arg225Ter
ENST00000564999.4:c.1153C>T
ENSP00000457649.1:p.Arg385Ter
ENST00000626584.1:c.505C>T
ENSP00000486072.1:p.Arg169Ter
ENST00000616053.3:c.901C>T
ENSP00000478549.1:p.Arg301Ter
ENST00000561992.4:c.763C>T
ENSP00000455179.1:p.Arg255Ter
ENST00000568740.4:c.1078C>T
ENSP00000455346.1:p.Arg360Ter
ENST00000630720.1:c.670C>T
ENSP00000487218.1:p.Arg224Ter
ENST00000570177.5:c.763C>T
ENSP00000454647.1:p.Arg255Ter
ENST00000544241.5:c.940C>T
ENSP00000441562.2:p.Arg314Ter
ENST00000564403.5:c.1171C>T
ENSP00000457263.1:p.Arg391Ter
ENST00000570287.5:c.673C>T
ENSP00000455763.1:p.Arg225Ter
ENST00000566286.4:c.1144C>T
ENSP00000455418.2:p.Arg382Ter
ENST00000567880.4:c.973C>T
ENSP00000454366.1:p.Arg325Ter
ENST00000537856.6:c.763C>T
ENSP00000439827.2:p.Arg255Ter
ENST00000563760.4:n.666C>T
ENST00000628689.1:c.*296C>T
ENST00000457482.6:c.673C>T
ENSP00000409447.2:p.Arg225Ter
ENST00000356073.7:c.1153C>T
ENSP00000348374.4:p.Arg385Ter

About this variant

This variant overlaps 32 transcripts and is associated with 2 phenotypes.

Variation displays