Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.01 (T)
Location

Chromosome 14:94844947 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM830003

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

14:g.94844947C>T
ENST00000448921.1:c.1096G>A
ENSP00000416066.1:p.Glu366Lys
ENST00000449399.3:c.1096G>A
ENSP00000416354.3:p.Glu366Lys
ENST00000404814.4:c.1096G>A
ENSP00000385960.4:p.Glu366Lys
ENST00000393087.4:c.1096G>A
ENSP00000376802.4:p.Glu366Lys
ENST00000437397.1:c.1096G>A
ENSP00000408474.1:p.Glu366Lys
ENST00000489769.1:c.*395G>A
ENST00000355814.4:c.1096G>A
ENSP00000348068.4:p.Glu366Lys
ENST00000393088.4:c.1096G>A
ENSP00000376803.4:p.Glu366Lys
ENST00000440909.1:c.1096G>A
ENSP00000390299.1:p.Glu366Lys

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni2.5, Illumina_HumanOmni5

Variation displays