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 8:43052825 (forward strand) | View in location tab

Co-located

with COSMIC COSM1100122 (C/G), COSM1100121 (C/G) ; HGMD-PUBLIC CM071800

Most severe consequence
Clinical significance

Synonyms

LSDB 16750

This variation has 11 HGVS names - click the plus to show

8:g.43052825C>T
ENST00000523989.1:n.1866C>T
ENST00000521576.1:c.704C>T
ENSP00000429029.1:p.Ser235Phe
ENST00000458501.2:c.1637C>T
ENSP00000389524.2:p.Ser546Phe
ENST00000519705.1:n.869C>T
ENST00000379644.4:c.1553C>T
ENSP00000368965.4:p.Ser518Phe
ENST00000297798.7:c.749C>T
ENSP00000297798.7:p.Ser250Phe

Variation displays