LDH info

Canonical Allele Identifier: CA117344
Gene: FRZB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5221
ClinVar RCV Id: RCV000005531
dbSNP Id: rs288326

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838608G>A , CM000664.2:g.182838608G>A GRCh38
NC_000002.11:g.183703336G>A , CM000664.1:g.183703336G>A GRCh37
NC_000002.10:g.183411581G>A NCBI36
NG_017197.1:g.33163C>T

Transcript Alleles

HGVS Amino-acid change
NM_001463.3:c.598C>T VV NP_001454.2:p.Arg200Trp
NM_001463.4:c.598C>T VV MANE Preferred NP_001454.2:p.Arg200Trp
ENST00000295113.4:c.598C>T ENSP00000295113.4:p.Arg200Trp