Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 17:35576171 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM973349

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10541, 2010_April_001_173_PEX12_601758_0004

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

17:g.35576171T>A
ENST00000225873.6:c.691A>T
ENSP00000225873.3:p.Lys231Ter
ENST00000613219.2:c.691A>T
ENSP00000482609.1:p.Lys231Ter
ENST00000586663.1:c.691A>T
ENSP00000466894.1:p.Lys231Ter

Variation displays