Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 1:41285131 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001721

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.41285131T>A
ENST00000509682.2:c.821T>A
ENSP00000423756.2:p.Leu274His
ENST00000506017.1:n.140T>A
ENST00000443478.3:c.507T>A
ENSP00000406735.3:p.Leu170His
ENST00000347132.5:c.821T>A
ENSP00000262916.6:p.Leu274His

Variation displays