Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.20 (A)
Location

Chromosome 17:29574957 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Archive dbSNP rs60308058

This variant has 9 HGVS names - click the plus to show

17:g.29574957A>G
ENST00000225394.7:c.2074-43T>C
ENST00000394869.7:c.2101-43T>C
ENST00000581348.5:c.2032-43T>C
ENST00000581474.1:n.153+14258A>G
ENST00000579937.5:c.2078T>C
ENSP00000464388.1:p.Val693Ala
ENST00000578670.5:c.*68-43T>C
ENST00000473217.5:n.2023-43T>C

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 22 transcripts and has 3694 sample genotypes.

Variant displays