LDH info

Canonical Allele Identifier: CA000268
Gene: PTEN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7825
ClinVar RCV Id: RCV000008271
dbSNP Id: rs121909225
COSMIC: COSM5223

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894049T>G , CM000672.2:g.87894049T>G GRCh38
NC_000010.10:g.89653806T>G , CM000672.1:g.89653806T>G GRCh37
NC_000010.9:g.89643786T>G NCBI36
NG_007466.2:g.35611T>G , LRG_311:g.35611T>G

Transcript Alleles

HGVS Amino-acid change
NM_000314.5:c.104T>G VV NP_000305.3:p.Met35Arg
NM_000314.6:c.104T>G VV NP_000305.3:p.Met35Arg
NM_001304717.2:c.623T>G VV NP_001291646.2:p.Met208Arg
NM_001304718.1:c.-602T>G VV NP_001291647.1:p.=
XM_006717926.2:c.104T>G XP_006717989.1:p.Met35Arg
XM_011539981.1:c.104T>G XP_011538283.1:p.Met35Arg
XM_011539982.1:c.68+13611T>G XP_011538284.1:p.=
XR_945789.1:n.816T>G
XR_945790.1:n.816T>G
XR_945791.1:n.816T>G
NM_000314.7:c.104T>G VV NP_000305.3:p.Met35Arg
NM_001304717.5:c.623T>G VV NP_001291646.4:p.Met208Arg
NM_001304718.2:c.-602T>G VV NP_001291647.1:p.=
ENST00000371953.7:c.104T>G ENSP00000361021.3:p.Met35Arg
ENST00000462694.1:n.106T>G
ENST00000610634.1:c.2T>G