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 8:43028883 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065256

Most severe consequence
Clinical significance

Synonyms

LSDB 16744

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

8:g.43028883C>T
ENST00000522082.1:c.89C>T
ENSP00000430151.1:p.Pro30Leu
ENST00000458501.2:c.932C>T
ENSP00000389524.2:p.Pro311Leu
ENST00000379644.4:c.848C>T
ENSP00000368965.4:p.Pro283Leu
ENST00000520704.1:c.*297C>T

Variation displays