Original source

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

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

Chromosome 7:107915506 (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 11 HGVS names - click the plus to show

7:g.107915506G>T
ENST00000205402.7:c.685G>T
ENSP00000205402.3:p.Gly229Cys
ENST00000417551.3:c.685G>T
ENSP00000390667.1:p.Gly229Cys
ENST00000437604.4:c.541G>T
ENSP00000387542.2:p.Gly181Cys
ENST00000451081.3:c.*428G>T
ENST00000440410.3:c.616G>T
ENSP00000417016.1:p.Gly206Cys
ENST00000415325.3:c.*359G>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays