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:2934859 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM980124

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000047.2:c.1743G>A, 6886

This variation has 7 HGVS names - click the plus to show

X:g.2934859C>T
ENST00000545496.2:c.1818G>A
ENSP00000441417.1:p.Trp606Ter
ENST00000540563.2:c.1608G>A
ENSP00000438198.1:p.Trp536Ter
ENST00000381134.4:c.1743G>A
ENSP00000370526.3:p.Trp581Ter

Variation displays