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 1:201328764 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043596

Most severe consequence
Clinical significance

Synonyms

LSDB 5872

This variation has 27 HGVS names - click the plus to show

1:g.201328764C>T
ENST00000367318.5:c.808G>A
ENSP00000356287.5:p.Asp270Asn
ENST00000491504.1:n.2047G>A
ENST00000458432.2:c.835G>A
ENSP00000387874.2:p.Asp279Asn
ENST00000460780.1:n.1957G>A
ENST00000367317.4:c.808G>A
ENSP00000356286.4:p.Asp270Asn
ENST00000360372.4:c.793G>A
ENSP00000353535.4:p.Asp265Asn
ENST00000367315.2:c.799G>A
ENSP00000356284.2:p.Asp267Asn
ENST00000421663.2:c.817G>A
ENSP00000404134.2:p.Asp273Asn
ENST00000367322.1:c.799G>A
ENSP00000356291.1:p.Asp267Asn
ENST00000509001.1:c.808G>A
ENSP00000422031.1:p.Asp270Asn
ENST00000438742.1:c.790G>A
ENSP00000414036.1:p.Asp264Asn
ENST00000476888.1:n.255G>A
ENST00000367320.2:c.709G>A
ENSP00000356289.2:p.Asp237Asn
ENST00000236918.7:c.823G>A
ENSP00000236918.7:p.Asp275Asn
ENST00000479297.1:n.524G>A

Variation displays