Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:201328373 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951222

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5866

This variation has 26 HGVS names - click the plus to show

1:g.201328373G>A
ENST00000491504.1:n.2071C>T
ENST00000367318.5:c.832C>T
ENSP00000356287.5:p.Arg278Cys
ENST00000458432.2:c.859C>T
ENSP00000387874.2:p.Arg287Cys
ENST00000460780.1:n.1981C>T
ENST00000367317.4:c.832C>T
ENSP00000356286.4:p.Arg278Cys
ENST00000367315.2:c.823C>T
ENSP00000356284.2:p.Arg275Cys
ENST00000360372.4:c.817C>T
ENSP00000353535.4:p.Arg273Cys
ENST00000509001.1:c.832C>T
ENSP00000422031.1:p.Arg278Cys
ENST00000367322.1:c.823C>T
ENSP00000356291.1:p.Arg275Cys
ENST00000421663.2:c.841C>T
ENSP00000404134.2:p.Arg281Cys
ENST00000438742.1:c.814C>T
ENST00000476888.1:n.279C>T
ENST00000367320.2:c.733C>T
ENSP00000356289.2:p.Arg245Cys
ENST00000236918.7:c.847C>T
ENSP00000236918.7:p.Arg283Cys
ENST00000479297.1:n.548C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays