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
Location

Chromosome 16:3243529 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014209

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

16:g.3243529C>T
ENST00000621655.1:c.*259G>A
ENST00000538326.3:c.*583G>A
ENST00000219596.3:c.1958G>A
ENSP00000219596.1:p.Arg653His
ENST00000576315.3:c.*475G>A
ENST00000536980.3:c.*234G>A
ENST00000536379.3:c.1325G>A
ENSP00000445079.1:p.Arg442His
ENST00000339854.6:c.1418G>A
ENSP00000339639.4:p.Arg473His
ENST00000570511.3:c.*442G>A
ENST00000541159.3:c.*162G>A
ENST00000574583.3:c.*442G>A
ENST00000542898.3:c.*234G>A
ENST00000572244.3:c.*342G>A
ENST00000537682.3:c.*234G>A
ENST00000539145.3:c.*591G>A
LRG_190:g.18099G>A
LRG_190t1.1:c.1958G>A
LRG_190p1.1:p.Arg653His

Variation displays