Canonical Allele Identifier: CA378370704
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 965264
ClinVar RCV Id: RCV001239665 RCV002418819
dbSNP Id: rs1251592783
gnomAD v3: 10-110812379-C-G
gnomAD v4: 10-110812379-C-G
MyVariant Identifiers: chr10:g.112572137C>G (hg19) chr10:g.110812379C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812379C>G , CM000672.2:g.110812379C>G GRCh38
NC_000010.10:g.112572137C>G , CM000672.1:g.112572137C>G GRCh37
NC_000010.9:g.112562127C>G NCBI36
NG_021177.1:g.172983C>G , LRG_382:g.172983C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1982C>G MANE Select ENSP00000358532.3:p.Pro661Arg
ENST00000369519.3:c.1982C>G ENSP00000358532.3:p.Pro661Arg
NM_001134363.2:c.1982C>G NP_001127835.2:p.Pro661Arg
XM_011539697.1:c.1598C>G XP_011537999.1:p.Pro533Arg
XM_017016103.2:c.1817C>G XP_016871592.1:p.Pro606Arg
XM_017016104.2:c.1598C>G XP_016871593.1:p.Pro533Arg
NM_001134363.3:c.1982C>G MANE Select NP_001127835.2:p.Pro661Arg
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