Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 11:17387595 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061828, CM056351

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

Variant allele A
11:g.17387595C>A
ENST00000526912.1:c.236G>T
ENSP00000432729.1:p.Cys79Phe
ENST00000528731.1:c.236G>T
ENSP00000434755.1:p.Cys79Phe
ENST00000339994.4:c.497G>T
ENSP00000345708.4:p.Cys166Phe

Variant allele T
11:g.17387595C>T
ENST00000526912.1:c.236G>A
ENSP00000432729.1:p.Cys79Tyr
ENST00000528731.1:c.236G>A
ENSP00000434755.1:p.Cys79Tyr
ENST00000339994.4:c.497G>A
ENSP00000345708.4:p.Cys166Tyr

Variation displays