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 16:3254625 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM015882

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 23 HGVS names - click the plus to show

16:g.3254625T>A
ENST00000538326.3:c.443A>T
ENSP00000437486.1:p.Glu148Val
ENST00000621655.1:c.277+1686A>T
ENST00000219596.3:c.443A>T
ENSP00000219596.1:p.Glu148Val
ENST00000576315.3:c.277+1686A>T
ENST00000536980.3:c.277+1686A>T
ENST00000536379.3:c.277+1686A>T
ENST00000339854.6:c.277+1686A>T
ENST00000541159.3:c.277+1686A>T
ENST00000570511.3:c.443A>T
ENSP00000458312.1:p.Glu148Val
ENST00000574583.3:c.277+1686A>T
ENST00000542898.3:c.443A>T
ENSP00000444615.1:p.Glu148Val
ENST00000572244.3:c.277+1686A>T
ENST00000537682.3:c.443A>T
ENSP00000438611.1:p.Glu148Val
ENST00000539145.3:c.277+1686A>T
LRG_190:g.7003A>T
LRG_190t1:c.443A>T
LRG_190p1:p.Glu148Val

Variation displays