LDH info

Canonical Allele Identifier: CA020501
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2234
dbSNP Id: rs28940300
COSMIC: COSM18386

User contributed link-outs

CIViC: CA020501

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149897C>T , CM000665.2:g.10149897C>T GRCh38
NC_000003.11:g.10191581C>T , CM000665.1:g.10191581C>T GRCh37
NC_000003.10:g.10166581C>T NCBI36
NG_008212.3:g.13263C>T , LRG_322:g.13263C>T

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.574C>T , LRG_322t1:c.574C>T NP_000542.1:p.Pro192Ser
NM_198156.2:c.451C>T VV NP_937799.1:p.Pro151Ser
NM_001354723.1:c.*128C>T VV NP_001341652.1:p.=
NM_000551.4:c.574C>T VV MANE Preferred NP_000542.1:p.Pro192Ser
NM_001354723.2:c.*128C>T VV NP_001341652.1:p.=
NM_198156.3:c.451C>T VV NP_937799.1:p.Pro151Ser
ENST00000256474.2:c.574C>T ENSP00000256474.2:p.Pro192Ser
ENST00000345392.2:c.451C>T ENSP00000344757.2:p.Pro151Ser
ENST00000477538.1:n.710C>T