Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 1:41285554 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992903

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.41285554T>C
ENST00000509682.2:c.842T>C
ENSP00000423756.2:p.Leu281Ser
ENST00000506017.1:n.161T>C
ENST00000443478.3:c.528T>C
ENSP00000406735.3:p.Leu177Ser
ENST00000347132.5:c.842T>C
ENSP00000262916.6:p.Leu281Ser

Variation displays