Original source

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

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

Chromosome 16:88651007 (forward strand) | View in location tab

Co-located

with COSMIC COSM131493 (G/A) ; HGMD-PUBLIC CM001111 ; PhenCode CYBAbase_D0024:g.1035C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_029_CYBA_608508_0009, 15775

This variation has 15 HGVS names - click the plus to show

16:g.88651007G>A
ENST00000567174.2:c.7C>T
ENSP00000454951.1:p.Gln3Ter
ENST00000261623.4:c.7C>T
ENSP00000261623.3:p.Gln3Ter
ENST00000568278.1:c.7C>T
ENSP00000455506.1:p.Gln3Ter
ENST00000569359.2:c.7C>T
ENSP00000456079.1:p.Gln3Ter
ENST00000562209.1:n.25C>T
ENST00000561972.1:n.48C>T
ENST00000566534.2:n.29C>T
LRG_52:g.5043C>T
LRG_52t1.1:c.7C>T
LRG_52p1.1:p.Gln3Ter

Variation displays