Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 16:11647422 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030679 ; PhenCode IPNMDB_639 (G/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_059_LITAF_603795_0002, NM_004862.3:c.344C>A, 12170

This variation has 31 HGVS names - click the plus to show

16:g.11647422G>T
ENST00000339430.5:c.344C>A
ENSP00000340118.5:p.Thr115Asn
ENST00000571459.1:c.220+2945C>A
ENST00000570798.1:c.344C>A
ENSP00000458871.1:p.Thr115Asn
ENST00000381810.3:c.344C>A
ENSP00000371231.3:p.Thr115Asn
ENST00000573332.1:c.*157C>A
ENST00000570904.1:c.344C>A
ENSP00000459138.1:p.Thr115Asn
ENST00000574701.1:c.344C>A
ENSP00000458981.1:p.Thr115Asn
ENST00000576036.1:c.344C>A
ENSP00000461667.1:p.Thr115Asn
ENST00000413364.2:c.344C>A
ENSP00000397958.2:p.Thr115Asn
ENST00000574763.1:c.344C>A
ENSP00000461813.1:p.Thr115Asn
ENST00000571688.1:c.344C>A
ENSP00000459533.1:p.Thr115Asn
ENST00000575426.1:c.*131C>A
ENST00000571976.1:c.344C>A
ENSP00000460133.1:p.Thr115Asn
ENST00000572255.1:c.65C>A
ENSP00000458836.1:p.Thr22Asn
ENST00000571627.1:c.344C>A
ENSP00000460743.1:p.Thr115Asn
LRG_253:g.38385C>A
LRG_253t1.1:c.344C>A
LRG_253p1.1:p.Thr115Asn

Variation displays