Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome X:106882531 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073283 ; PhenCode IPNMDB_937 (A/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8431, NM_002764.3:c.129A>C

This variation has 11 HGVS names - click the plus to show

X:g.106882531A>C
ENST00000543248.1:c.129A>C
ENSP00000443185.1:p.Glu43Asp
ENST00000372435.4:c.129A>C
ENSP00000361512.4:p.Glu43Asp
ENST00000372419.3:c.129A>C
ENSP00000361496.3:p.Glu43Asp
ENST00000372428.4:c.-73A>C
LRG_264:g.15878A>C
LRG_264t1.1:c.129A>C
LRG_264p1.1:p.Glu43Asp

Variation displays