Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 17:39768546 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950727 ; PhenCode HIFD_KRT16:c.395T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

17:g.39768546A>G
ENST00000588319.1:n.472T>C
ENST00000593067.1:c.-312-8T>C
ENST00000301653.4:c.395T>C
ENSP00000301653.3:p.Leu132Pro

Variation displays