LDH info

Canonical Allele Identifier: CA118826
Gene: HSPB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7481
ClinVar RCV Id: RCV000007909
dbSNP Id: rs28937569

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76304100C>T , CM000669.2:g.76304100C>T GRCh38
NC_000007.13:g.75933417C>T , CM000669.1:g.75933417C>T GRCh37
NC_000007.12:g.75771353C>T NCBI36
NG_008995.1:g.6543C>T , LRG_248:g.6543C>T

Transcript Alleles

HGVS Amino-acid change
NM_001540.3:c.545C>T , LRG_248t1:c.545C>T NP_001531.1:p.Pro182Leu
NM_001540.4:c.545C>T VV NP_001531.1:p.Pro182Leu
NM_001540.5:c.545C>T VV MANE Preferred NP_001531.1:p.Pro182Leu
ENST00000248553.6:c.545C>T ENSP00000248553.6:p.Pro182Leu
ENST00000429938.1:c.41C>T ENSP00000405285.1:p.Pro14Leu
ENST00000447574.1:c.*709C>T ENSP00000414357.1:p.=