Original source

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

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

Chromosome 17:19559848 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960045

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16379

This variation has 19 HGVS names - click the plus to show

17:g.19559848G>A
ENST00000395575.2:c.641G>A
ENSP00000378942.2:p.Cys214Tyr
ENST00000581518.1:c.641G>A
ENSP00000461916.1:p.Cys214Tyr
ENST00000571537.1:c.134G>A
ENSP00000458942.1:p.Cys45Tyr
ENST00000472059.1:c.*199G>A
ENST00000176643.6:c.641G>A
ENSP00000176643.6:p.Cys214Tyr
ENST00000582991.1:c.641G>A
ENSP00000464153.1:p.Cys214Tyr
ENST00000579855.1:c.641G>A
ENSP00000463637.1:p.Cys214Tyr
ENST00000339618.4:c.641G>A
ENSP00000345774.4:p.Cys214Tyr
ENST00000578696.1:c.48G>A
ENSP00000464453.1:p.Cys17Tyr
ENST00000476965.1:n.391G>A

Variation displays