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 17:81511913 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032826

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 67, 2010_April_001_004_ACTG1_102560_0002

This variation has 27 HGVS names - click the plus to show

17:g.81511913T>A
ENST00000575994.2:c.353A>T
ENSP00000460464.1:p.Lys118Met
ENST00000576214.2:n.374A>T
ENST00000576209.2:n.238A>T
ENST00000576917.2:n.406A>T
ENST00000572105.3:c.353A>T
ENSP00000462823.1:p.Lys118Met
ENST00000575842.2:c.353A>T
ENSP00000458162.1:p.Lys118Met
ENST00000615544.1:c.353A>T
ENSP00000477968.1:p.Lys118Met
ENST00000571691.2:c.326A>T
ENSP00000461407.1:p.Lys109Met
ENST00000573283.2:c.353A>T
ENSP00000458435.1:p.Lys118Met
ENST00000571721.2:c.353A>T
ENSP00000460660.1:p.Lys118Met
ENST00000331925.3:c.353A>T
ENSP00000331514.2:p.Lys118Met
ENST00000575087.2:c.353A>T
ENSP00000459124.1:p.Lys118Met
ENST00000576544.2:c.353A>T
ENSP00000461672.1:p.Lys118Met
ENST00000575659.2:c.353A>T
ENSP00000459119.1:p.Lys118Met
ENST00000570382.1:c.339+14A>T

Variation displays