Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

This variant has 6 HGVS names - click the plus to show

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

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 2644 sample genotypes, is associated with 1 phenotype and is mentioned in 16 citations.

Variant displays