Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 17:44915253 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM032930

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2175

HGVS names

This variant has 19 HGVS names - Hide

17:g.44915253G>T
ENST00000585728.5:c.181+53C>A
ENST00000588316.1:c.234C>A
ENSP00000465629.1:p.Asp78Glu
ENST00000591327.1:n.248C>A
ENST00000588957.5:c.-272+564C>A
ENST00000376990.8:c.234C>A
ENSP00000366189.4:p.Asp78Glu
ENST00000592320.5:c.234C>A
ENSP00000465320.1:p.Asp78Glu
ENST00000435360.6:c.234C>A
ENSP00000403962.1:p.Asp78Glu
ENST00000253408.9:c.234C>A
ENSP00000253408.4:p.Asp78Glu
ENST00000586793.5:c.234C>A
ENSP00000468500.1:p.Asp78Glu
ENST00000588037.1:c.234C>A
ENSP00000466163.1:p.Asp78Glu
ENST00000588735.1:c.82+152C>A

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays