Original source

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

Alleles
G/C/T | Ancestral: G | Ambiguity code: B
Location

Chromosome X:101356112 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 7043

This variation has 24 HGVS names - click the plus to show

Variant allele T
X:g.101356112G>T
ENST00000618050.1:c.1506C>A
ENSP00000479125.1:p.Cys502Ter
ENST00000478995.1:n.178C>A
ENST00000372880.2:c.1039-1418C>A
ENST00000621635.1:c.1608C>A
ENSP00000483570.1:p.Cys536Ter
ENST00000308731.7:c.1506C>A
ENSP00000308176.7:p.Cys502Ter
LRG_128:g.35113C>A
LRG_128t1.1:c.1506C>A
LRG_128p1.1:p.Cys502Ter

Variant allele C
X:g.101356112G>C
ENST00000618050.1:c.1506C>G
ENSP00000479125.1:p.Cys502Trp
ENST00000478995.1:n.178C>G
ENST00000372880.2:c.1039-1418C>G
ENST00000621635.1:c.1608C>G
ENSP00000483570.1:p.Cys536Trp
ENST00000308731.7:c.1506C>G
ENSP00000308176.7:p.Cys502Trp
LRG_128:g.35113C>G
LRG_128t1.1:c.1506C>G
LRG_128p1.1:p.Cys502Trp

Variation displays