Original source

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

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

Chromosome X:47206011 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM080583

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_003334.3:c.1639A>G, 8581

This variation has 6 HGVS names - click the plus to show

X:g.47206011A>G
ENST00000335972.8:c.1639A>G
ENSP00000338413.6:p.Ser547Gly
ENST00000377351.6:c.1639A>G
ENSP00000366568.4:p.Ser547Gly
ENST00000490869.1:n.465-67A>G

Variation displays