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 8:43173740 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM065256

Most severe consequence
Clinical significance

Synonyms

LSDB 16744

This variation has 6 HGVS names - click the plus to show

8:g.43173740C>T
ENST00000522082.3:c.89C>T
ENSP00000430151.1:p.Pro30Leu
ENST00000379644.6:c.848C>T
ENSP00000368965.4:p.Pro283Leu
ENST00000520704.1:c.*297C>T

Variation displays