Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome X:147936534 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930253

Most severe consequence
Clinical significance

Synonyms

LSDB 8374

This variation has 22 HGVS names - click the plus to show

X:g.147936534T>A
ENST00000370471.4:c.911T>A
ENSP00000359502.3:p.Ile304Asn
ENST00000370470.2:c.911T>A
ENSP00000359501.1:p.Ile304Asn
ENST00000621453.1:c.911T>A
ENSP00000479528.1:p.Ile304Asn
ENST00000439526.3:c.905T>A
ENSP00000395923.2:p.Ile302Asn
ENST00000370477.2:c.911T>A
ENSP00000359508.1:p.Ile304Asn
ENST00000440235.3:c.911T>A
ENSP00000413764.3:p.Ile304Asn
ENST00000218200.9:c.911T>A
ENSP00000218200.8:p.Ile304Asn
ENST00000370475.5:c.911T>A
ENSP00000359506.4:p.Ile304Asn
ENST00000616614.1:c.*817T>A
ENST00000616382.1:c.911T>A
ENSP00000481058.1:p.Ile304Asn
ENST00000620828.1:n.1630T>A
ENST00000475038.2:c.*157T>A

Variation displays