Original source

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

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

Chromosome 16:88713181 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920219, CM101776 ; PhenCode CYBAbase_D0024:g.5269G>A (C/T), CYBAbase_D0024:g.5269G>C (C/G)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15769, 2010_April_001_024_CYBA_608508_0003

This variation has 17 HGVS names - click the plus to show

16:g.88713181C>T
ENST00000567174.1:c.269G>A
ENSP00000454951.1:p.Arg90Gln
ENST00000563526.1:n.244G>A
ENST00000568278.1:c.269G>A
ENSP00000455506.1:p.Arg90Gln
ENST00000566229.1:c.258G>A
ENST00000569359.1:c.269G>A
ENSP00000456079.1:p.Arg90Gln
ENST00000565588.1:c.53G>A
ENST00000261623.3:c.269G>A
ENSP00000261623.3:p.Arg90Gln
ENST00000562209.1:n.549G>A
ENST00000566534.1:n.291G>A
LRG_52:g.9277G>A
LRG_52t1.1:c.269G>A
LRG_52p1.1:p.Arg90Gln

Variation displays