Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 4:103806378 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS075098

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_001008388.1:c.109G>C, 17053

This variation has 9 HGVS names - click the plus to show

4:g.103806378G>C
ENST00000574446.1:c.*68G>C
ENST00000394789.3:c.*12C>G
ENST00000503584.1:c.*952C>G
ENST00000514972.1:c.*709C>G
ENST00000273986.4:c.109G>C
ENSP00000273986.4:p.Glu37Gln
ENST00000503643.1:c.139G>C
ENSP00000423716.1:p.Glu47Gln

Variation displays