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 | MAF: 0.02 (A)
Location

Chromosome 16:3249586 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990837

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.3249586G>A
ENST00000621655.1:c.472C>T
ENSP00000481436.1:p.Pro158Ser
ENST00000538326.3:c.1105C>T
ENSP00000437486.1:p.Pro369Ser
ENST00000536980.3:c.472C>T
ENSP00000444178.1:p.Pro158Ser
ENST00000339854.6:c.565C>T
ENSP00000339639.4:p.Pro189Ser
ENST00000541159.3:c.472C>T
ENSP00000438711.1:p.Pro158Ser
ENST00000570511.3:c.911-2340C>T
ENST00000574583.3:c.278-2340C>T
ENST00000572244.3:c.278-3039C>T
ENST00000537682.3:c.1105C>T
ENSP00000438611.1:p.Pro369Ser
ENST00000576315.3:c.278-2340C>T
ENST00000219596.3:c.1105C>T
ENSP00000219596.1:p.Pro369Ser
ENST00000536379.3:c.472C>T
ENSP00000445079.1:p.Pro158Ser
ENST00000542898.3:c.1198C>T
ENSP00000444615.1:p.Pro400Ser
ENST00000539145.3:c.278-2340C>T
LRG_190:g.12042C>T
LRG_190t1.1:c.1105C>T
LRG_190p1.1:p.Pro369Ser

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

Variation displays