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 3:57198405 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM070158

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10625, 2010_April_001_121_HESX1_601802_0009

This variation has 4 HGVS names - click the plus to show

3:g.57198405C>T
ENST00000473921.2:c.358-110G>A
ENST00000295934.5:c.445G>A
ENSP00000295934.3:p.Glu149Lys

Variation displays