Canonical Allele Identifier: CA5688661
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 519063
ClinVar RCV Id: RCV000618042 RCV001241272 RCV001293162
dbSNP Id: rs749563704
ExAC: 10:112572159 C / A
gnomAD v2: 10-112572159-C-A
gnomAD v3: 10-110812401-C-A
gnomAD v4: 10-110812401-C-A
MyVariant Identifiers: chr10:g.112572159C>A (hg19) chr10:g.110812401C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812401C>A , CM000672.2:g.110812401C>A GRCh38
NC_000010.10:g.112572159C>A , CM000672.1:g.112572159C>A GRCh37
NC_000010.9:g.112562149C>A NCBI36
NG_021177.1:g.173005C>A , LRG_382:g.173005C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2004C>A MANE Select ENSP00000358532.3:p.Asp668Glu
ENST00000369519.3:c.2004C>A ENSP00000358532.3:p.Asp668Glu
NM_001134363.2:c.2004C>A NP_001127835.2:p.Asp668Glu
XM_011539697.1:c.1620C>A XP_011537999.1:p.Asp540Glu
XM_017016103.2:c.1839C>A XP_016871592.1:p.Asp613Glu
XM_017016104.2:c.1620C>A XP_016871593.1:p.Asp540Glu
NM_001134363.3:c.2004C>A MANE Select NP_001127835.2:p.Asp668Glu
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