Original source

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

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

Chromosome 1:26139280 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022839 ; PhenCode SEPN1:c.1384T>G (T/G)

Most severe consequence
Clinical significance

Synonyms

LSDB 13660

This variation has 8 HGVS names - click the plus to show

1:g.26139280T>G
ENST00000361547.2:c.1384T>G
ENSP00000355141.2:p.Ter462GlyextTer?
ENST00000494537.1:n.62T>G
ENST00000354177.4:c.1274+8T>G
ENST00000374315.1:c.1282T>G
ENSP00000363434.1:p.Ter428GlyextTer?
ENST00000559265.1:n.255+910T>G

Variation displays