Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 16:88810550 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910042

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_008_APRT_102600_0004, 87, NM_000485.2:c.194A>T

This variation has 13 HGVS names - click the plus to show

16:g.88810550T>A
ENST00000426324.3:c.194A>T
ENSP00000397007.2:p.Asp65Val
ENST00000563655.2:c.241-402A>T
ENST00000562464.1:n.332-402A>T
ENST00000567713.2:c.194A>T
ENSP00000455749.1:p.Asp65Val
ENST00000569616.1:c.192A>T
ENSP00000455692.1:p.Asp65Val
ENST00000378364.4:c.194A>T
ENSP00000367615.3:p.Asp65Val
ENST00000567391.2:c.188-402A>T
ENST00000568319.2:c.188-402A>T

Variation displays