Original source

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

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

Chromosome 17:39768561 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM994216 ; PhenCode HIFD_KRT16:c.380G>C (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

17:g.39768561C>G
ENST00000588319.1:n.457G>C
ENST00000301653.4:c.380G>C
ENSP00000301653.3:p.Arg127Pro
ENST00000593067.1:c.-312-23G>C

Variation displays