Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W | MAF: 0.30 (T)
Location

Chromosome 12:48398080 (forward strand) | View in location tab

Most severe consequence
Evidence status

This variation has 2 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

12:g.48398080T>A
ENST00000490609.1:n.190A>T
ENST00000380518.3:c.25A>T
ENSP00000369889.3:p.Thr9Ser
ENST00000465743.2:n.66A>T
ENST00000474996.2:n.153A>T
ENST00000337299.6:c.25A>T
ENSP00000338213.6:p.Thr9Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays