Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.02 (T)
Location

Chromosome 16:3249468 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990838

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

16:g.3249468C>T
ENST00000538326.3:c.1223G>A
ENSP00000437486.1:p.Arg408Gln
ENST00000621655.1:c.590G>A
ENSP00000481436.1:p.Arg197Gln
ENST00000536980.3:c.590G>A
ENSP00000444178.1:p.Arg197Gln
ENST00000339854.6:c.683G>A
ENSP00000339639.4:p.Arg228Gln
ENST00000570511.3:c.911-2222G>A
ENST00000541159.3:c.590G>A
ENSP00000438711.1:p.Arg197Gln
ENST00000574583.3:c.278-2222G>A
ENST00000572244.3:c.278-2921G>A
ENST00000537682.3:c.1223G>A
ENSP00000438611.1:p.Arg408Gln
ENST00000576315.3:c.278-2222G>A
ENST00000219596.3:c.1223G>A
ENSP00000219596.1:p.Arg408Gln
ENST00000536379.3:c.590G>A
ENSP00000445079.1:p.Arg197Gln
ENST00000542898.3:c.1316G>A
ENSP00000444615.1:p.Arg439Gln
ENST00000539145.3:c.278-2222G>A
LRG_190:g.12160G>A
LRG_190t1:c.1223G>A
LRG_190p1:p.Arg408Gln

This variation has assays on 4 chips - click the plus to show

Variation displays