Original source

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

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

Chromosome X:47065502 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS080748

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8582, NM_003334.3:c.1731C>T

This variation has 4 HGVS names - click the plus to show

X:g.47065502C>T
ENST00000335972.6:c.1731C>T
ENST00000377351.4:c.1731C>T
ENST00000490869.1:n.490C>T

Variation displays