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 13:23898652 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM961273 ; PhenCode SGCG:c.848G>A (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16013, 2010_April_001_063_SGCG_608896_0002

This variation has 10 HGVS names - click the plus to show

13:g.23898652G>A
ENST00000218867.3:c.848G>A
ENSP00000218867.3:p.Cys283Tyr
ENST00000537476.1:c.848G>A
ENSP00000444100.1:p.Cys283Tyr
ENST00000545013.1:c.848G>A
ENSP00000442232.1:p.Cys283Tyr
LRG_207:g.148593G>A
LRG_207t1.1:c.848G>A
LRG_207p1.1:p.Cys283Tyr

Variation displays