Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome X:67711453 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM962533

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

X:g.67711453C>A
ENST00000612452.1:c.1367C>A
ENSP00000484033.1:p.Ala456Asp
ENST00000396043.2:c.341C>A
ENSP00000379358.2:p.Ala114Asp
ENST00000396044.4:c.1937C>A
ENSP00000379359.3:p.Ala646Asp
ENST00000374690.4:c.1937C>A
ENSP00000363822.3:p.Ala646Asp

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays