Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 9:133352074 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM993214

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 5520

This variant has 7 HGVS names - click the plus to show

9:g.133352074A>C
ENST00000371974.7:c.820T>G
ENSP00000361042.3:p.Tyr274Asp
ENST00000437995.1:n.730T>G
ENST00000495952.5:n.810T>G
ENST00000615505.4:c.493T>G
ENSP00000482067.1:p.Tyr165Asp

About this variant

This variant overlaps 32 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays