Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 16:89810716 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034036

Most severe consequence
Clinical significance

Synonyms

LSDB 14678

This variation has 20 HGVS names - click the plus to show

16:g.89810716C>T
ENST00000389301.4:c.513G>A
ENSP00000373952.3:p.Trp171Ter
ENST00000567883.2:n.506G>A
ENST00000543736.2:c.426+213G>A
ENST00000534992.2:c.513G>A
ENSP00000443675.1:p.Trp171Ter
ENST00000563673.2:c.513G>A
ENSP00000456443.1:p.Trp171Ter
ENST00000568369.2:c.513G>A
ENSP00000456829.1:p.Trp171Ter
ENST00000389302.4:c.513G>A
ENSP00000373953.3:p.Trp171Ter
ENST00000563513.1:c.*154G>A
ENST00000566889.2:n.1095G>A
ENST00000565582.2:c.426G>A
ENSP00000456722.1:p.Trp142Ter
LRG_495:g.10942G>A
LRG_495t1.1:c.513G>A
LRG_495p1.1:p.Trp171Ter

Variation displays