Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 1:235952001 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021558 ; PhenCode LYSTbase_D0020:g.79225G>A (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000081.2:c.4688G>A, 14324

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

1:g.235952001C>T
ENST00000492844.1:n.148G>A
ENST00000489585.1:n.5239G>A
ENST00000536965.1:c.*112G>A
ENST00000389793.2:c.4688G>A
ENSP00000374443.2:p.Arg1563His
ENST00000389794.3:c.4688G>A
ENSP00000374444.3:p.Arg1563His

Variation displays