Original source

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

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

Chromosome 16:88648103 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001112 ; PhenCode CYBAbase_D0024:g.3939G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

16:g.88648103C>T
ENST00000563526.3:n.45G>A
ENST00000567174.3:c.70G>A
ENSP00000454951.1:p.Gly24Arg
ENST00000261623.5:c.70G>A
ENSP00000261623.3:p.Gly24Arg
ENST00000568278.1:c.70G>A
ENSP00000455506.1:p.Gly24Arg
ENST00000566229.1:c.59G>A
ENSP00000457060.1:p.Arg20Gln
ENST00000569359.3:c.70G>A
ENSP00000456079.1:p.Gly24Arg
ENST00000562209.1:n.88G>A
ENST00000561972.1:n.111G>A
ENST00000566534.3:n.92G>A
LRG_52:g.7947G>A
LRG_52t1:c.70G>A
LRG_52p1:p.Gly24Arg

Variation displays