Original source

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

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

Chromosome 1:226883817 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081407

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

1:g.226883817C>T
ENST00000422240.3:c.254C>T
ENSP00000403737.2:p.Ala85Val
ENST00000366782.2:c.353C>T
ENSP00000355746.1:p.Ala118Val
ENST00000366783.4:c.254C>T
ENSP00000355747.3:p.Ala85Val
ENST00000460775.2:c.-21-4274C>T
ENST00000495488.2:c.254C>T
ENSP00000429682.1:p.Ala85Val

Variation displays