Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 16:3254268 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981242

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.3254268G>A
ENST00000621655.1:c.277+2043C>T
ENST00000538326.3:c.800C>T
ENSP00000437486.1:p.Thr267Ile
ENST00000576315.3:c.277+2043C>T
ENST00000219596.3:c.800C>T
ENSP00000219596.1:p.Thr267Ile
ENST00000536980.3:c.277+2043C>T
ENST00000536379.3:c.277+2043C>T
ENST00000339854.6:c.277+2043C>T
ENST00000570511.3:c.800C>T
ENSP00000458312.1:p.Thr267Ile
ENST00000541159.3:c.277+2043C>T
ENST00000574583.3:c.277+2043C>T
ENST00000542898.3:c.800C>T
ENSP00000444615.1:p.Thr267Ile
ENST00000572244.3:c.277+2043C>T
ENST00000537682.3:c.800C>T
ENSP00000438611.1:p.Thr267Ile
ENST00000539145.3:c.277+2043C>T
LRG_190:g.7360C>T
LRG_190t1:c.800C>T
LRG_190p1:p.Thr267Ile

Variation displays