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 14:20472468 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012158 ; PhenCode NPbase_D0064:g.4059C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4325, 2010_April_001_040_NP_164050_0009

This variation has 14 HGVS names - click the plus to show

14:g.20472468C>T
ENST00000557229.2:n.291C>T
ENST00000553591.1:c.289C>T
ENSP00000452421.1:p.Arg97Ter
ENST00000556293.2:n.291C>T
ENST00000554065.1:c.-66C>T
ENST00000553418.2:c.172C>T
ENSP00000450663.1:p.Arg58Ter
ENST00000554056.2:n.283C>T
ENST00000361505.6:c.172C>T
ENSP00000354532.5:p.Arg58Ter
LRG_91:g.8086C>T
LRG_91t1.1:c.172C>T
LRG_91p1.1:p.Arg58Ter

Variation displays