Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 12:32802499 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043061

Most severe consequence
 
Stop gained
Evidence status

Synonyms

LSDB 11518

HGVS names

This variant has 11 HGVS names - Hide

12:g.32802499G>A
ENST00000340811.8:c.2071C>T
ENSP00000342800.4:p.Arg691Ter
ENST00000613243.1:c.2203C>T
ENSP00000478295.1:p.Arg735Ter
ENST00000070846.10:c.2203C>T
ENSP00000070846.6:p.Arg735Ter
ENST00000549461.1:n.517C>T
LRG_398:g.99348C>T
LRG_398t1:c.2203C>T
LRG_398p1:p.Arg735Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays