Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 2:234669457 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM941960

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_134_UGT1A1_191740_0021, 6007

This variation has 24 HGVS names - click the plus to show

2:g.234669457T>A
ENST00000373445.1:c.856-6223T>A
ENST00000305139.6:c.862-6223T>A
ENST00000373409.3:c.868-6223T>A
ENST00000482026.1:c.868-6223T>A
ENST00000446481.2:c.61-6223T>A
ENST00000373424.1:c.61-6223T>A
ENST00000608383.1:c.524T>A
ENSP00000476741.1:p.Leu175Gln
ENST00000373426.3:c.856-6223T>A
ENST00000608381.1:c.868-6223T>A
ENST00000450233.1:c.868-6223T>A
ENST00000360418.3:c.524T>A
ENSP00000353593.3:p.Leu175Gln
ENST00000609637.1:c.856-6223T>A
ENST00000609767.1:c.868-6223T>A
ENST00000373414.3:c.868-6223T>A
ENST00000406651.1:c.61-6223T>A
ENST00000305208.5:c.524T>A
ENSP00000304845.5:p.Leu175Gln
ENST00000344644.5:c.856-6223T>A
ENST00000373450.4:c.856-6223T>A
ENST00000354728.4:c.856-6223T>A
ENST00000484784.2:c.*238-6223T>A

Variation displays