Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 1:41285137 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990768

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

1:g.41285137G>C
ENST00000509682.2:c.827G>C
ENSP00000423756.2:p.Trp276Ser
ENST00000506017.1:n.146G>C
ENST00000443478.3:c.513G>C
ENSP00000406735.3:p.Trp172Ser
ENST00000347132.5:c.827G>C
ENSP00000262916.6:p.Trp276Ser

Variation displays