Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 17:41612324 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM994215 ; PhenCode HIFD_KRT16:c.365A>C (T/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.41612324T>G
ENST00000588319.1:n.442A>C
ENST00000593067.1:c.-312-38A>C
ENST00000301653.6:c.365A>C
ENSP00000301653.3:p.Gln122Pro

Variation displays