Original source

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

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

Chromosome 12:48004297 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

12:g.48004297T>A
ENST00000490609.1:n.190A>T
ENST00000380518.5:c.25A>T
ENSP00000369889.3:p.Thr9Ser
ENST00000465743.2:n.66A>T
ENST00000337299.6:c.25A>T
ENSP00000338213.6:p.Thr9Ser
ENST00000474996.4:n.153A>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays