Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 7:94426459 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930157

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 20 HGVS names - Hide

Variant allele A
7:g.94426459G>A
ENST00000481570.5:n.3007G>A
ENST00000297268.10:c.3034G>A
ENSP00000297268.6:p.Gly1012Ser
ENST00000478215.1:n.593G>A
ENST00000620463.1:c.3028G>A
ENSP00000477719.1:p.Gly1010Ser
LRG_2:g.36899G>A
LRG_2t1:c.3034G>A
LRG_2p1:p.Gly1012Ser

Variant allele C
7:g.94426459G>C
ENST00000481570.5:n.3007G>C
ENST00000297268.10:c.3034G>C
ENSP00000297268.6:p.Gly1012Arg
ENST00000478215.1:n.593G>C
ENST00000620463.1:c.3028G>C
ENSP00000477719.1:p.Gly1010Arg
LRG_2:g.36899G>C
LRG_2t1:c.3034G>C
LRG_2p1:p.Gly1012Arg

About this variant

This variant overlaps 22 transcripts and is associated with 2 phenotypes.

Variant displays