Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.01 (A)
Location

Chromosome 22:19753444 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM033032

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 11 HGVS names - click the plus to show

22:g.19753444G>A
ENST00000332710.4:c.928G>A
ENSP00000331791.4:p.Gly310Ser
ENST00000359500.3:c.928G>A
ENSP00000352483.3:p.Gly310Ser
ENST00000484336.1:n.123G>A
ENST00000329705.7:c.928G>A
ENSP00000331176.7:p.Gly310Ser
LRG_226:g.14219G>A
LRG_226t1.1:c.928G>A
LRG_226p1.1:p.Gly310Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays