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 1:201334425 (forward strand) | View in location tab

Co-located

with COSMIC COSM209476 (C/A) ; HGMD-PUBLIC CM951218, CM961373

Most severe consequence
Clinical significance

Synonyms

LSDB 5864

This variation has 32 HGVS names - click the plus to show

1:g.201334425C>T
ENST00000503459.1:n.144G>A
ENST00000367318.5:c.275G>A
ENSP00000356287.5:p.Arg92Gln
ENST00000491504.1:n.1514G>A
ENST00000458432.2:c.311G>A
ENSP00000387874.2:p.Arg104Gln
ENST00000422165.1:c.290G>A
ENSP00000395163.1:p.Arg97Gln
ENST00000367317.4:c.275G>A
ENSP00000356286.4:p.Arg92Gln
ENST00000360372.4:c.260G>A
ENSP00000353535.4:p.Arg87Gln
ENST00000367315.2:c.275G>A
ENSP00000356284.2:p.Arg92Gln
ENST00000509001.1:c.275G>A
ENSP00000422031.1:p.Arg92Gln
ENST00000367322.1:c.275G>A
ENSP00000356291.1:p.Arg92Gln
ENST00000421663.2:c.281G>A
ENSP00000404134.2:p.Arg94Gln
ENST00000438742.1:c.260G>A
ENSP00000414036.1:p.Arg87Gln
ENST00000455702.1:c.305G>A
ENSP00000402238.1:p.Arg102Gln
ENST00000367320.2:c.291+313G>A
ENST00000412633.1:c.272G>A
ENSP00000408731.1:p.Arg91Gln
ENST00000515042.1:n.201G>A
ENST00000236918.7:c.290G>A
ENSP00000236918.7:p.Arg97Gln
ENST00000466570.1:n.531G>A

Variation displays