Original source

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

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

Chromosome X:48382212 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030033

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_090_EBP_300205_0013, 6924

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

X:g.48382212T>C
ENST00000446158.1:c.53T>C
ENSP00000390031.1:p.Leu18Pro
ENST00000495186.1:c.53T>C
ENSP00000417052.1:p.Leu18Pro
ENST00000276096.6:n.110-99T>C
ENST00000498425.1:n.174T>C
ENST00000414061.1:c.53T>C
ENSP00000405832.1:p.Leu18Pro

Variation displays