Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 17:19656535 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960045

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16379

This variant has 22 HGVS names - click the plus to show

17:g.19656535G>A
ENST00000630662.2:c.-341G>A
ENST00000395575.6:c.641G>A
ENSP00000378942.2:p.Cys214Tyr
ENST00000631291.2:c.641G>A
ENSP00000486085.1:p.Cys214Tyr
ENST00000581518.5:c.641G>A
ENSP00000461916.1:p.Cys214Tyr
ENST00000571537.1:c.134G>A
ENSP00000458942.1:p.Cys45Tyr
ENST00000472059.5:c.*199G>A
ENST00000582991.5:c.641G>A
ENSP00000464153.1:p.Cys214Tyr
ENST00000176643.10:c.641G>A
ENSP00000176643.6:p.Cys214Tyr
ENST00000579855.5:c.641G>A
ENSP00000463637.1:p.Cys214Tyr
ENST00000339618.8:c.641G>A
ENSP00000345774.4:p.Cys214Tyr
ENST00000578696.1:c.48G>A
ENSP00000464453.1:p.Cys17Tyr
ENST00000476965.5:n.391G>A

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays