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 5:41803148 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM005412

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10157

This variation has 6 HGVS names - click the plus to show

5:g.41803148C>T
ENST00000509987.1:c.413G>A
ENSP00000425348.1:p.Gly138Glu
ENST00000196371.6:c.971G>A
ENSP00000196371.5:p.Gly324Glu
ENST00000514723.1:n.144+37303G>A

Variation displays