Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 15:25371798 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041095

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10352, 2010_April_001_050_UBE3A_601623_0006

This variation has 17 HGVS names - click the plus to show

15:g.25371798T>G
ENST00000566215.2:c.316A>C
ENSP00000457771.1:p.Thr106Pro
ENST00000397954.3:c.385A>C
ENSP00000381045.2:p.Thr129Pro
ENST00000614096.1:c.376A>C
ENSP00000481796.1:p.Thr126Pro
ENST00000554726.1:n.246-19798T>G
ENST00000438097.2:c.316A>C
ENSP00000411258.1:p.Thr106Pro
ENST00000428984.3:c.316A>C
ENSP00000401265.2:p.Thr106Pro
ENST00000232165.4:c.385A>C
ENSP00000232165.4:p.Thr129Pro
LRG_15:g.72184A>C
LRG_15t1.1:c.316A>C
LRG_15p1.1:p.Thr106Pro

Variation displays