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 2:128186002 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920594

Most severe consequence
Clinical significance

Synonyms

LSDB 17270

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

2:g.128186002C>T
ENST00000409048.1:c.968C>T
ENSP00000386679.1:p.Pro323Leu
ENST00000402125.2:c.190C>T
ENSP00000384225.2:p.Pro64Leu
ENST00000453608.2:c.1031C>T
ENSP00000404030.2:p.Pro344Leu
ENST00000422777.3:c.866C>T
ENSP00000409543.3:p.Pro289Leu
ENST00000234071.3:c.866C>T
ENSP00000234071.3:p.Pro289Leu

Variation displays