Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 17:41612315 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950725 ; PhenCode HIFD_KRT16:c.374A>G (T/C)

Most severe consequence
Clinical significance

This variation has 2 synonyms - click the plus to show

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

17:g.41612315T>C
ENST00000588319.1:n.451A>G
ENST00000301653.6:c.374A>G
ENSP00000301653.3:p.Asn125Ser
ENST00000593067.1:c.-312-29A>G

Variation displays