Original source

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

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

Chromosome 17:39768558 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013760 ; PhenCode HIFD_KRT16:c.383T>A (A/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

17:g.39768558A>T
ENST00000588319.1:n.460T>A
ENST00000301653.4:c.383T>A
ENSP00000301653.3:p.Leu128Gln
ENST00000593067.1:c.-312-20T>A

Variation displays