LDH info

Canonical Allele Identifier: CA026379
Gene: RB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126839
dbSNP Id: rs587778848

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380215T>C , CM000675.2:g.48380215T>C GRCh38
NC_000013.10:g.48954351T>C , CM000675.1:g.48954351T>C GRCh37
NC_000013.9:g.47852352T>C NCBI36
NG_009009.1:g.81469T>C , LRG_517:g.81469T>C

Transcript Alleles

HGVS Amino-acid change
NM_000321.2:c.1472T>C , LRG_517t1:c.1472T>C NP_000312.2:p.Leu491Pro
XM_011535171.1:c.1211T>C XP_011533473.1:p.Leu404Pro
XM_011535171.2:c.1211T>C XP_011533473.1:p.Leu404Pro
ENST00000267163.4:c.1472T>C ENSP00000267163.4:p.Leu491Pro