Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 17:41061435 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950489, CM960672

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

17:g.41061435G>C
ENST00000585489.1:c.447-1497G>C
ENST00000253801.2:c.562G>C
ENSP00000253801.1:p.Gly188Arg
ENST00000592383.1:c.485G>C
ENSP00000465958.1:p.Arg162Thr
LRG_147:g.13621G>C
LRG_147t1.1:c.562G>C
LRG_147p1.1:p.Gly188Arg

Variation displays