Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 12:44172041 (forward strand) | View in location tab

Co-located
Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 14292

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

12:g.44172041C>T
ENST00000547101.1:c.*779C>T
ENST00000547928.1:n.396C>T
ENST00000552309.1:c.*462C>T
ENST00000448290.2:c.877C>T
ENSP00000390651.2:p.Gln293Ter
ENST00000547521.1:c.*548C>T
ENST00000550386.1:c.*779C>T
ENST00000440781.2:c.505C>T
ENSP00000408734.2:p.Gln169Ter
ENST00000550615.1:c.*548C>T
ENST00000431837.1:c.505C>T
ENSP00000390327.1:p.Gln169Ter
ENST00000551736.1:c.877C>T
ENSP00000446490.1:p.Gln293Ter
LRG_75:g.24295C>T
LRG_75t1.1:c.877C>T
LRG_75p1.1:p.Gln293Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays