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 4:54274869 (forward strand) | View in location tab

Co-located

with COSMIC COSM1430077 (T/C), COSM739 (T/A) ; HGMD-PUBLIC CM074406

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB Cosmic:739, 4744

This variation has 10 HGVS names - click the plus to show

4:g.54274869T>A
ENST00000509092.2:n.1500T>A
ENST00000507166.2:c.1018-56T>A
ENST00000257290.6:c.1682T>A
ENSP00000257290.5:p.Val561Asp
ENST00000509490.2:c.1682T>A
ENSP00000424218.1:p.Val561Asp
LRG_309:g.50773T>A
LRG_309t1.1:c.1682T>A
LRG_309p1.1:p.Val561Asp

Variation displays