Original source

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

Alleles
G/A | Ambiguity code: R
Location

Chromosome X:67722944 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920095

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_013_AR_313700_0019, 24882, 8519

This variation has 8 HGVS names - click the plus to show

X:g.67722944G>A
ENST00000612452.1:c.2018G>A
ENSP00000484033.1:p.Arg673His
ENST00000396043.2:c.971G>A
ENSP00000379358.2:p.Arg324His
ENST00000396044.4:c.2174-742G>A
ENST00000374690.4:c.2567G>A
ENSP00000363822.3:p.Arg856His

Genotyping chips

This variation has assays on: Illumina_HumanOmni5, Illumina_1M-duo

Variation displays