Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 17:41612310 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950726 ; PhenCode HIFD_KRT16:c.379C>T (G/A)

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.41612310G>A
ENST00000588319.1:n.456C>T
ENST00000593067.1:c.-312-24C>T
ENST00000301653.5:c.379C>T
ENSP00000301653.3:p.Arg127Cys

Variation displays