Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 1:201334372 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM068093, CM951219, CM031383

Most severe consequence
Clinical significance

Synonyms

LSDB 5867

This variation has 28 HGVS names - click the plus to show

1:g.201334372A>T
ENST00000367318.5:c.328T>A
ENSP00000356287.5:p.Phe110Ile
ENST00000491504.1:n.1567T>A
ENST00000503459.1:n.197T>A
ENST00000458432.2:c.364T>A
ENSP00000387874.2:p.Phe122Ile
ENST00000367317.4:c.328T>A
ENSP00000356286.4:p.Phe110Ile
ENST00000367315.2:c.328T>A
ENSP00000356284.2:p.Phe110Ile
ENST00000360372.4:c.313T>A
ENSP00000353535.4:p.Phe105Ile
ENST00000421663.2:c.334T>A
ENSP00000404134.2:p.Phe112Ile
ENST00000367322.1:c.328T>A
ENSP00000356291.1:p.Phe110Ile
ENST00000509001.1:c.328T>A
ENSP00000422031.1:p.Phe110Ile
ENST00000438742.1:c.313T>A
ENSP00000414036.1:p.Phe105Ile
ENST00000455702.1:c.358T>A
ENSP00000402238.1:p.Phe120Ile
ENST00000367320.2:c.291+366T>A
ENST00000515042.1:n.254T>A
ENST00000236918.7:c.343T>A
ENSP00000236918.7:p.Phe115Ile
ENST00000466570.1:n.584T>A

Variation displays