Canonical Allele Identifier: CA5688658
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784024
ClinVar RCV Id: RCV002416961 RCV003495303
dbSNP Id: rs750494502
ExAC: 10:112572149 C / G
gnomAD v2: 10-112572149-C-G
gnomAD v3: 10-110812391-C-G
gnomAD v4: 10-110812391-C-G
MyVariant Identifiers: chr10:g.112572149C>G (hg19) chr10:g.110812391C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812391C>G , CM000672.2:g.110812391C>G GRCh38
NC_000010.10:g.112572149C>G , CM000672.1:g.112572149C>G GRCh37
NC_000010.9:g.112562139C>G NCBI36
NG_021177.1:g.172995C>G , LRG_382:g.172995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1994C>G MANE Select ENSP00000358532.3:p.Ser665Cys
ENST00000369519.3:c.1994C>G ENSP00000358532.3:p.Ser665Cys
NM_001134363.2:c.1994C>G NP_001127835.2:p.Ser665Cys
XM_011539697.1:c.1610C>G XP_011537999.1:p.Ser537Cys
XM_017016103.2:c.1829C>G XP_016871592.1:p.Ser610Cys
XM_017016104.2:c.1610C>G XP_016871593.1:p.Ser537Cys
NM_001134363.3:c.1994C>G MANE Select NP_001127835.2:p.Ser665Cys
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