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
Location

Chromosome 12:43778238 (forward strand) | View in location tab

Co-located
Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14292

This variation has 19 HGVS names - click the plus to show

12:g.43778238C>T
ENST00000613694.3:c.877C>T
ENSP00000479889.2:p.Gln293Ter
ENST00000547101.4:c.*779C>T
ENST00000547928.1:n.396C>T
ENST00000448290.5:c.*218C>T
ENST00000547521.4:c.*548C>T
ENST00000552309.4:c.*462C>T
ENST00000550386.4:c.*779C>T
ENST00000550615.4:c.*548C>T
ENST00000440781.5:c.505C>T
ENSP00000408734.2:p.Gln169Ter
ENST00000431837.4:c.505C>T
ENSP00000390327.1:p.Gln169Ter
ENST00000551736.4:c.877C>T
ENSP00000446490.1:p.Gln293Ter
LRG_75:g.24295C>T
LRG_75t1:c.877C>T
LRG_75p1:p.Gln293Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variation displays