Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 7:107555951 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990485

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6384

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

7:g.107555951G>T
ENST00000417551.1:c.685G>T
ENSP00000390667.1:p.Gly229Cys
ENST00000205402.5:c.685G>T
ENSP00000205402.3:p.Gly229Cys
ENST00000440410.1:c.616G>T
ENSP00000417016.1:p.Gly206Cys
ENST00000437604.2:c.541G>T
ENSP00000387542.2:p.Gly181Cys
ENST00000451081.1:c.*428G>T
ENST00000415325.1:c.*359G>T
ENST00000537148.1:c.388G>T
ENSP00000442399.1:p.Gly130Cys

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays