Canonical Allele Identifier: CA378370296
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 947027
ClinVar RCV Id: RCV001218008
dbSNP Id: rs1844777857
MyVariant Identifiers: chr10:g.112572058T>C (hg19) chr10:g.110812300T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812300T>C , CM000672.2:g.110812300T>C GRCh38
NC_000010.10:g.112572058T>C , CM000672.1:g.112572058T>C GRCh37
NC_000010.9:g.112562048T>C NCBI36
NG_021177.1:g.172904T>C , LRG_382:g.172904T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1903T>C MANE Select ENSP00000358532.3:p.Ser635Pro
ENST00000369519.3:c.1903T>C ENSP00000358532.3:p.Ser635Pro
NM_001134363.2:c.1903T>C NP_001127835.2:p.Ser635Pro
XM_011539697.1:c.1519T>C XP_011537999.1:p.Ser507Pro
XM_017016103.2:c.1738T>C XP_016871592.1:p.Ser580Pro
XM_017016104.2:c.1519T>C XP_016871593.1:p.Ser507Pro
NM_001134363.3:c.1903T>C MANE Select NP_001127835.2:p.Ser635Pro
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