LDH info

Canonical Allele Identifier: CA6533764
Gene: VDR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 308877
dbSNP Id: rs731236

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47844974A>G , CM000674.2:g.47844974A>G GRCh38
NC_000012.11:g.48238757A>G , CM000674.1:g.48238757A>G GRCh37
NC_000012.10:g.46525024A>G NCBI36
NG_008731.1:g.65058T>C

Transcript Alleles

HGVS Amino-acid change
NM_000376.2:c.1056T>C VV NP_000367.1:p.Ile352=
NM_001017535.1:c.1056T>C VV NP_001017535.1:p.Ile352=
NM_001017536.1:c.1206T>C VV NP_001017536.1:p.Ile402=
XM_006719587.2:c.1056T>C XP_006719650.1:p.Ile352=
XM_011538720.1:c.1056T>C XP_011537022.1:p.Ile352=
NM_001364085.1:c.1056T>C VV NP_001351014.1:p.Ile352=
XM_006719587.3:c.1056T>C XP_006719650.1:p.Ile352=
XM_011538720.2:c.1056T>C XP_011537022.1:p.Ile352=
XM_024449178.1:c.1125T>C XP_024304946.1:p.Ile375=
ENST00000229022.7:c.1056T>C ENSP00000229022.3:p.Ile352=
ENST00000395324.6:c.1056T>C ENSP00000378734.2:p.Ile352=
ENST00000547065.1:c.*1058T>C ENSP00000449074.1:p.=
ENST00000549336.5:c.1056T>C ENSP00000449573.1:p.Ile352=
ENST00000550325.5:c.1206T>C ENSP00000447173.1:p.Ile402=