Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.31 (T)
Location

Chromosome 16:48258198 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062373

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

16:g.48258198C>T
ENST00000394747.1:c.538G>A
ENSP00000378230.1:p.Gly180Arg
ENST00000394748.1:c.538G>A
ENSP00000378231.1:p.Gly180Arg
ENST00000353782.5:c.538G>A
ENSP00000311326.6:p.Gly180Arg
ENST00000537808.1:c.538G>A
ENSP00000438530.1:p.Gly180Arg
ENST00000356608.2:c.538G>A
ENSP00000349017.2:p.Gly180Arg
ENST00000567385.1:n.936G>A

This variation has assays on 8 chips - click the plus to show

Variation displays