Original source

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

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

Chromosome 1:169500043 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001987

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 17290

This variation has 5 HGVS names - click the plus to show

1:g.169500043T>C
ENST00000367796.3:c.5204A>G
ENSP00000356770.3:p.Tyr1735Cys
ENST00000367797.3:c.5189A>G
ENSP00000356771.3:p.Tyr1730Cys

Variation displays