Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:96254050 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM101225

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.475C>T

This variation has 10 HGVS names - click the plus to show

2:g.96254050G>A
ENST00000435268.1:c.223C>T
ENSP00000411810.1:p.Gln75Ter
ENST00000258439.4:c.475C>T
ENSP00000258439.2:p.Gln159Ter
ENST00000432959.1:c.475C>T
ENSP00000416660.1:p.Gln159Ter
LRG_528:g.16964C>T
LRG_528t1.1:c.475C>T
LRG_528p1.1:p.Gln159Ter

Variation displays