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 1:201364366 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 29 HGVS names - click the plus to show

1:g.201364366G>A
ENST00000503459.1:n.260C>T
ENST00000491504.4:n.1630C>T
ENST00000367318.8:c.391C>T
ENSP00000356287.5:p.Arg131Trp
ENST00000458432.5:c.214C>T
ENSP00000387874.3:p.Arg72Trp
ENST00000367317.7:c.376C>T
ENSP00000356286.5:p.Arg126Trp
ENST00000367315.5:c.397C>T
ENSP00000356284.3:p.Arg133Trp
ENST00000360372.7:c.301C>T
ENSP00000353535.5:p.Arg101Trp
ENST00000367322.4:c.391C>T
ENSP00000356291.1:p.Arg131Trp
ENST00000421663.5:c.214C>T
ENSP00000404134.3:p.Arg72Trp
ENST00000509001.4:c.391C>T
ENSP00000422031.1:p.Arg131Trp
ENST00000438742.4:c.376C>T
ENSP00000414036.1:p.Arg126Trp
ENST00000455702.4:c.421C>T
ENSP00000402238.1:p.Arg141Trp
ENST00000367320.5:c.301C>T
ENSP00000356289.2:p.Arg101Trp
ENST00000515042.4:n.317C>T
ENST00000236918.10:c.421C>T
ENSP00000236918.8:p.Arg141Trp
ENST00000466570.4:n.647C>T

About this variant

This variant overlaps 25 transcripts and is associated with 5 phenotypes.

Variation displays