Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 16:11647420 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030680 ; PhenCode IPNMDB_641 (A/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12171, NM_004862.3:c.346T>G, 2010_April_001_060_LITAF_603795_0003

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

16:g.11647420A>C
ENST00000339430.5:c.346T>G
ENSP00000340118.5:p.Trp116Gly
ENST00000571459.1:c.220+2947T>G
ENST00000570798.1:c.346T>G
ENSP00000458871.1:p.Trp116Gly
ENST00000573332.1:c.*159T>G
ENST00000381810.3:c.346T>G
ENSP00000371231.3:p.Trp116Gly
ENST00000570904.1:c.346T>G
ENSP00000459138.1:p.Trp116Gly
ENST00000574701.1:c.346T>G
ENSP00000458981.1:p.Trp116Gly
ENST00000576036.1:c.346T>G
ENSP00000461667.1:p.Trp116Gly
ENST00000413364.2:c.346T>G
ENSP00000397958.2:p.Trp116Gly
ENST00000574763.1:c.346T>G
ENSP00000461813.1:p.Trp116Gly
ENST00000571688.1:c.346T>G
ENSP00000459533.1:p.Trp116Gly
ENST00000575426.1:c.*133T>G
ENST00000571976.1:c.346T>G
ENSP00000460133.1:p.Trp116Gly
ENST00000572255.1:c.67T>G
ENSP00000458836.1:p.Trp23Gly
ENST00000571627.1:c.346T>G
ENSP00000460743.1:p.Trp116Gly
LRG_253:g.38387T>G
LRG_253t1.1:c.346T>G
LRG_253p1.1:p.Trp116Gly

Variation displays