Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

with HGMD-PUBLIC CM043061

Most severe consequence
Clinical significance

Synonyms

LSDB 11518

This variation has 11 HGVS names - click the plus to show

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

Variation displays