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:154765505 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014178 ; PhenCode DKC1base_D0028:g.3748C>T (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

X:g.154765505C>T
ENST00000437719.3:c.102C>T
ENSP00000395693.1:p.Thr35Met
ENST00000620277.2:c.146C>T
ENSP00000478387.1:p.Thr49Met
ENST00000473552.1:n.199C>T
ENST00000369550.7:c.146C>T
ENSP00000358563.5:p.Thr49Met
ENST00000452771.3:c.104C>T
ENSP00000407325.1:p.Thr35Met
ENST00000413910.3:c.146C>T
ENSP00000400542.1:p.Thr49Met
LRG_55:g.7750C>T
LRG_55t1.1:c.146C>T
LRG_55p1.1:p.Thr49Met

Variation displays