Original source

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

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

Chromosome 1:201365297 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Clinical significance

Synonyms

LSDB 5864

This variation has 31 HGVS names - click the plus to show

1:g.201365297C>T
ENST00000367318.6:c.275G>A
ENSP00000356287.5:p.Arg92Gln
ENST00000491504.2:n.1514G>A
ENST00000503459.1:n.144G>A
ENST00000458432.3:c.98G>A
ENSP00000387874.3:p.Arg33Gln
ENST00000422165.2:c.290G>A
ENSP00000395163.1:p.Arg97Gln
ENST00000367317.5:c.260G>A
ENSP00000356286.5:p.Arg87Gln
ENST00000360372.5:c.291+313G>A
ENST00000367315.3:c.281G>A
ENSP00000356284.3:p.Arg94Gln
ENST00000367322.2:c.275G>A
ENSP00000356291.1:p.Arg92Gln
ENST00000509001.2:c.275G>A
ENSP00000422031.1:p.Arg92Gln
ENST00000421663.3:c.98G>A
ENSP00000404134.3:p.Arg33Gln
ENST00000438742.2:c.260G>A
ENSP00000414036.1:p.Arg87Gln
ENST00000455702.2:c.305G>A
ENSP00000402238.1:p.Arg102Gln
ENST00000412633.2:c.272G>A
ENSP00000408731.1:p.Arg91Gln
ENST00000367320.3:c.291+313G>A
ENST00000515042.2:n.201G>A
ENST00000236918.8:c.305G>A
ENSP00000236918.8:p.Arg102Gln
ENST00000466570.2:n.531G>A

Variation displays