LDH info

Canonical Allele Identifier: CA339928
Gene: LRRK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1941
ClinVar RCV Id: RCV000002018
dbSNP Id: rs35870237

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340404T>C , CM000674.2:g.40340404T>C GRCh38
NC_000012.11:g.40734206T>C , CM000674.1:g.40734206T>C GRCh37
NC_000012.10:g.39020473T>C NCBI36
NG_011709.1:g.120394T>C

Transcript Alleles

HGVS Amino-acid change
NM_198578.3:c.6059T>C VV NP_940980.3:p.Ile2020Thr
XM_005268629.2:c.6059T>C XP_005268686.1:p.Ile2020Thr
XM_011537877.1:c.6059T>C XP_011536179.1:p.Ile2020Thr
XM_011537878.1:c.6059T>C XP_011536180.1:p.Ile2020Thr
XM_011537879.1:c.4856T>C XP_011536181.1:p.Ile1619Thr
XM_005268629.4:c.6059T>C XP_005268686.1:p.Ile2020Thr
XM_011537877.3:c.6059T>C XP_011536179.1:p.Ile2020Thr
XM_017018787.1:c.2975T>C XP_016874276.1:p.Ile992Thr
XM_017018788.2:c.2321T>C XP_016874277.1:p.Ile774Thr
XM_024448833.1:c.4856T>C XP_024304601.1:p.Ile1619Thr
NM_198578.4:c.6059T>C VV MANE Preferred NP_940980.4:p.Ile2020Thr
ENST00000298910.11:c.6059T>C ENSP00000298910.7:p.Ile2020Thr
ENST00000430804.5:n.3355T>C
ENST00000479187.5:n.2740T>C