Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 5:78181545 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM067639 ; PhenCode AP3B1base_D0103:g.114127A>T (T/A)

Most severe consequence
Clinical significance

Synonyms

LSDB 11883

This variation has 8 HGVS names - click the plus to show

5:g.78181545T>A
ENST00000255194.7:c.904A>T
ENSP00000255194.6:p.Arg302Ter
ENST00000519295.2:c.757A>T
ENSP00000430597.1:p.Arg253Ter
LRG_170:g.118160A>T
LRG_170t1.1:c.904A>T
LRG_170p1.1:p.Arg302Ter

Variation displays