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 1:227071518 (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 16 HGVS names - click the plus to show

1:g.227071518C>T
ENST00000496965.1:c.254C>T
ENSP00000430647.1:p.Ala85Val
ENST00000422240.2:c.254C>T
ENSP00000403737.2:p.Ala85Val
ENST00000366782.1:c.353C>T
ENSP00000355746.1:p.Ala118Val
ENST00000495488.1:c.254C>T
ENSP00000429682.1:p.Ala85Val
ENST00000391872.2:c.353C>T
ENSP00000375745.2:p.Ala118Val
ENST00000460775.1:c.-21-4274C>T
ENST00000340188.4:c.254C>T
ENSP00000339860.4:p.Ala85Val
ENST00000366783.3:c.254C>T
ENSP00000355747.3:p.Ala85Val

Variation displays