Canonical Allele Identifier: CA378373644
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1194288
ClinVar RCV Id: RCV001556967
dbSNP Id: rs893252924
MyVariant Identifiers: chr10:g.112572536G>C (hg19) chr10:g.110812778G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812778G>C , CM000672.2:g.110812778G>C GRCh38
NC_000010.10:g.112572536G>C , CM000672.1:g.112572536G>C GRCh37
NC_000010.9:g.112562526G>C NCBI36
NG_021177.1:g.173382G>C , LRG_382:g.173382G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2381G>C MANE Select ENSP00000358532.3:p.Arg794Thr
ENST00000369519.3:c.2381G>C ENSP00000358532.3:p.Arg794Thr
NM_001134363.2:c.2381G>C NP_001127835.2:p.Arg794Thr
XM_011539697.1:c.1997G>C XP_011537999.1:p.Arg666Thr
XM_017016103.2:c.2216G>C XP_016871592.1:p.Arg739Thr
XM_017016104.2:c.1997G>C XP_016871593.1:p.Arg666Thr
NM_001134363.3:c.2381G>C MANE Select NP_001127835.2:p.Arg794Thr
Search 100 bp 5'
Search 100 bp 3'