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 1:40819893 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990770, CM990769

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 16 HGVS names - click the plus to show

Variant allele A
1:g.40819893G>A
ENST00000509682.4:c.853G>A
ENSP00000423756.2:p.Gly285Ser
ENST00000506017.1:n.172G>A
ENST00000443478.3:c.539G>A
ENSP00000406735.3:p.Gly181Ser
ENST00000347132.7:c.853G>A
ENSP00000262916.6:p.Gly285Ser

Variant allele T
1:g.40819893G>T
ENST00000509682.4:c.853G>T
ENSP00000423756.2:p.Gly285Cys
ENST00000506017.1:n.172G>T
ENST00000443478.3:c.539G>T
ENSP00000406735.3:p.Gly181Cys
ENST00000347132.7:c.853G>T
ENSP00000262916.6:p.Gly285Cys

Variation displays