Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 1:201364336 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013440 ; ESP TMP_ESP_1_201333464_201333464 (G/-)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 46 HGVS names - click the plus to show

Variant allele A
1:g.201364336G>A
ENST00000503459.1:n.290C>T
ENST00000367318.6:c.421C>T
ENSP00000356287.5:p.Arg141Trp
ENST00000491504.2:n.1660C>T
ENST00000458432.3:c.244C>T
ENSP00000387874.3:p.Arg82Trp
ENST00000367317.5:c.406C>T
ENSP00000356286.5:p.Arg136Trp
ENST00000367315.3:c.427C>T
ENSP00000356284.3:p.Arg143Trp
ENST00000360372.5:c.331C>T
ENSP00000353535.5:p.Arg111Trp
ENST00000367322.2:c.421C>T
ENSP00000356291.1:p.Arg141Trp
ENST00000509001.2:c.421C>T
ENSP00000422031.1:p.Arg141Trp
ENST00000421663.3:c.244C>T
ENSP00000404134.3:p.Arg82Trp
ENST00000438742.2:c.406C>T
ENSP00000414036.1:p.Arg136Trp
ENST00000455702.2:c.451C>T
ENSP00000402238.1:p.Arg151Trp
ENST00000367320.3:c.331C>T
ENSP00000356289.2:p.Arg111Trp
ENST00000515042.2:n.347C>T
ENST00000236918.8:c.451C>T
ENSP00000236918.8:p.Arg151Trp
ENST00000466570.2:n.677C>T

Variant allele T
1:g.201364336G>T
ENST00000503459.1:n.290C>A
ENST00000367318.6:c.421C>A
ENST00000491504.2:n.1660C>A
ENST00000458432.3:c.244C>A
ENST00000367317.5:c.406C>A
ENST00000367315.3:c.427C>A
ENST00000360372.5:c.331C>A
ENST00000367322.2:c.421C>A
ENST00000509001.2:c.421C>A
ENST00000421663.3:c.244C>A
ENST00000438742.2:c.406C>A
ENST00000455702.2:c.451C>A
ENST00000367320.3:c.331C>A
ENST00000515042.2:n.347C>A
ENST00000236918.8:c.451C>A
ENST00000466570.2:n.677C>A

Variation displays