LDH info

Canonical Allele Identifier: CA020423
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2231
ClinVar RCV Id: RCV000002319
dbSNP Id: rs28940297
COSMIC: COSM14355

User contributed link-outs

CIViC: CA020423

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149811T>C , CM000665.2:g.10149811T>C GRCh38
NC_000003.11:g.10191495T>C , CM000665.1:g.10191495T>C GRCh37
NC_000003.10:g.10166495T>C NCBI36
NG_008212.3:g.13177T>C , LRG_322:g.13177T>C

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.488T>C , LRG_322t1:c.488T>C NP_000542.1:p.Leu163Pro
NM_198156.2:c.365T>C VV NP_937799.1:p.Leu122Pro
NM_001354723.1:c.*42T>C VV NP_001341652.1:p.=
ENST00000256474.2:c.488T>C ENSP00000256474.2:p.Leu163Pro
ENST00000345392.2:c.365T>C ENSP00000344757.2:p.Leu122Pro
ENST00000477538.1:n.624T>C