Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M | MAF: 0.06 (C)
Location

Chromosome X:19375782 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950922

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

X:g.19375782A>C
ENST00000422285.2:c.844A>C
ENSP00000394382.2:p.Met282Leu
ENST00000478795.1:n.283A>C
ENST00000540249.1:c.751A>C
ENSP00000440761.1:p.Met251Leu
ENST00000379806.5:c.958A>C
ENSP00000369134.5:p.Met320Leu
ENST00000481733.1:n.272A>C
ENST00000379804.1:c.1A>C
ENSP00000369132.1:p.Met1?
ENST00000545074.1:c.865A>C
ENSP00000438550.1:p.Met289Leu

This variation has assays on 8 chips - click the plus to show

Variation displays