Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.29 (A)
Location

Chromosome 17:39905943 (forward strand) | View in location tab

Co-located

with COSMIC COSM148261 (G/A), COSM3927729 (G/A)

Most severe consequence
 
Missense variant
Evidence status

This variant has 5 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

17:g.39905943G>A
ENST00000520542.5:c.904C>T
ENSP00000430157.1:p.Pro302Ser
ENST00000479136.5:n.1672C>T
ENST00000523371.5:c.*204C>T
ENST00000394179.5:c.892C>T
ENSP00000377733.2:p.Pro298Ser
ENST00000477054.6:n.4119C>T
ENST00000522564.5:c.*86C>T
ENST00000360317.7:c.931C>T
ENSP00000353465.3:p.Pro311Ser
ENST00000394175.6:c.865C>T
ENSP00000377729.2:p.Pro289Ser
ENST00000418519.5:c.931C>T
ENSP00000415049.1:p.Pro311Ser
ENST00000524039.5:c.*168C>T
ENST00000309481.11:c.892C>T
ENSP00000312584.7:p.Pro298Ser

This variant has assays on 13 chips - click the plus to show

About this variant

This variant overlaps 15 transcripts, has 3803 sample genotypes, is associated with 5 phenotypes and is mentioned in 20 citations.

Variant displays