LDH info

Canonical Allele Identifier: CA122605
Gene: HNF1B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12647
dbSNP Id: rs121918675

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37739490C>T , CM000679.2:g.37739490C>T GRCh38
NC_000017.10:g.36099481C>T , CM000679.1:g.36099481C>T GRCh37
NC_000017.9:g.33173594C>T NCBI36
NG_013019.2:g.10617G>A

Transcript Alleles

HGVS Amino-acid change
NM_000458.3:c.494G>A VV NP_000449.1:p.Arg165His
NM_001165923.3:c.494G>A VV NP_001159395.1:p.Arg165His
NM_001304286.1:c.494G>A VV NP_001291215.1:p.Arg165His
XM_011525160.1:c.494G>A XP_011523462.1:p.Arg165His
XM_011525161.1:c.494G>A XP_011523463.1:p.Arg165His
XM_011525162.1:c.494G>A XP_011523464.1:p.Arg165His
XM_011525163.1:c.494G>A XP_011523465.1:p.Arg165His
XM_011525164.1:c.494G>A XP_011523466.1:p.Arg165His
XM_011525162.2:c.494G>A XP_011523464.1:p.Arg165His
XM_011525163.2:c.494G>A XP_011523465.1:p.Arg165His
NM_000458.4:c.494G>A VV MANE Preferred NP_000449.1:p.Arg165His
NM_001165923.4:c.494G>A VV NP_001159395.1:p.Arg165His
NM_001304286.2:c.494G>A VV NP_001291215.1:p.Arg165His
ENST00000613727.4:c.494G>A ENSP00000477524.1:p.Arg165His
ENST00000614313.4:c.494G>A ENSP00000482529.1:p.Arg165His
ENST00000617272.4:c.494G>A ENSP00000478682.1:p.Arg165His
ENST00000617811.4:c.494G>A ENSP00000480291.1:p.Arg165His
ENST00000620125.1:c.494G>A ENSP00000481245.1:p.Arg165His
ENST00000621123.4:c.494G>A ENSP00000482711.1:p.Arg165His