Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: 0.10 (T)
Location

Chromosome 5:96783162 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_021556

HGVS names

This variant has 12 HGVS names - Hide

Variant allele T
5:g.96783162C>T
ENST00000443439.6:c.2174G>A
ENSP00000406304.2:p.Arg725Gln
ENST00000514604.5:n.598G>A
ENST00000296754.7:c.2174G>A
ENSP00000296754.3:p.Arg725Gln

Variant allele G
5:g.96783162C>G
ENST00000443439.6:c.2174G>C
ENSP00000406304.2:p.Arg725Pro
ENST00000514604.5:n.598G>C
ENST00000296754.7:c.2174G>C
ENSP00000296754.3:p.Arg725Pro

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 16 transcripts, has 4024 sample genotypes, is associated with 1 phenotype and is mentioned in 18 citations.

Variant displays