Original source

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

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

Chromosome 16:48224287 (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 10 HGVS names - click the plus to show

16:g.48224287C>T
ENST00000394747.3:c.538G>A
ENSP00000378230.1:p.Gly180Arg
ENST00000394748.3:c.538G>A
ENSP00000378231.1:p.Gly180Arg
ENST00000353782.7:c.538G>A
ENSP00000311326.6:p.Gly180Arg
ENST00000356608.4:c.538G>A
ENSP00000349017.2:p.Gly180Arg
ENST00000567385.3:n.936G>A

This variation has assays on 10 chips - click the plus to show

Variation displays