Original source

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

Alleles
C/T|Ambiguity code: Y|MAF: 0.11 (T)
Location

Chromosome 5:96786506 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

5:g.96786506C>T
ENST00000443439.6:c.1723G>A
ENSP00000406304.2:p.Asp575Asn
ENST00000507859.1:n.386G>A
ENST00000514604.5:n.147G>A
ENST00000296754.7:c.1723G>A
ENSP00000296754.3:p.Asp575Asn

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 7 transcripts, has 4034 sample genotypes and is mentioned in 22 citations.

Variant displays