Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.22 (G)
Location

Chromosome 5:74689390 (forward strand) | View in location tab

Co-located

with COSMIC COSM149850 (A/G), COSM3683901 (A/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

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

5:g.74689390A>G
ENST00000511181.5:c.-314A>G
ENST00000261416.11:c.362A>G
ENSP00000261416.7:p.Lys121Arg
ENST00000515528.1:n.417A>G
ENST00000513079.5:n.427A>G

This variant has assays on 11 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2644 sample genotypes, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays