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 5:78141268 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020264

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003664.3:c.1525C>T, 11884

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

5:g.78141268G>A
ENST00000255194.7:c.1525C>T
ENSP00000255194.6:p.Arg509Ter
ENST00000519295.2:c.1378C>T
ENSP00000430597.1:p.Arg460Ter
LRG_170:g.158437C>T
LRG_170t1.1:c.1525C>T
LRG_170p1.1:p.Arg509Ter

Variation displays