Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome X:48523858 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990494

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_083_EBP_300205_0001, 6912

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

X:g.48523858G>A
ENST00000446158.2:c.87G>A
ENSP00000390031.1:p.Trp29Ter
ENST00000495186.2:c.87G>A
ENSP00000417052.1:p.Trp29Ter
ENST00000276096.7:n.110-65G>A
ENST00000498425.1:n.208G>A
ENST00000414061.1:c.87G>A
ENSP00000405832.1:p.Trp29Ter

Variation displays