LDH info

Canonical Allele Identifier: CA020495
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2235
ClinVar RCV Id: RCV000002323
dbSNP Id: rs28940301

User contributed link-outs

CIViC: CA020495

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149894C>G , CM000665.2:g.10149894C>G GRCh38
NC_000003.11:g.10191578C>G , CM000665.1:g.10191578C>G GRCh37
NC_000003.10:g.10166578C>G NCBI36
NG_008212.3:g.13260C>G , LRG_322:g.13260C>G

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.571C>G , LRG_322t1:c.571C>G NP_000542.1:p.His191Asp
NM_198156.2:c.448C>G VV NP_937799.1:p.His150Asp
NM_001354723.1:c.*125C>G VV NP_001341652.1:p.=
ENST00000256474.2:c.571C>G ENSP00000256474.2:p.His191Asp
ENST00000345392.2:c.448C>G ENSP00000344757.2:p.His150Asp
ENST00000477538.1:n.707C>G