Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.14 (T)
Location

Chromosome 1:209964080 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM052248

Most severe consequence
Evidence status

This variation has 5 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

1:g.209964080C>T
ENST00000542854.1:c.535G>A
ENSP00000440532.1:p.Val179Ile
ENST00000456314.1:c.820G>A
ENSP00000403855.1:p.Val274Ile
ENST00000367021.3:c.820G>A
ENSP00000355988.3:p.Val274Ile

This variation has assays on 5 chips - click the plus to show

Variation displays