Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome X:48523958 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990495

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6913, 2010_April_001_084_EBP_300205_0002

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

X:g.48523958C>T
ENST00000446158.3:c.187C>T
ENSP00000390031.1:p.Arg63Ter
ENST00000495186.3:c.187C>T
ENSP00000417052.1:p.Arg63Ter
ENST00000276096.8:n.145C>T
ENST00000498425.1:n.308C>T
ENST00000414061.1:c.187C>T
ENSP00000405832.1:p.Arg63Ter

Variation displays