Canonical Allele Identifier: CA333148
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 138899
ClinVar RCV Id: RCV000127732
dbSNP Id: rs587781136
ExAC: 10:112540622 A / C
gnomAD v2: 10-112540622-A-C
gnomAD v3: 10-110780864-A-C
gnomAD v4: 10-110780864-A-C
MyVariant Identifiers: chr10:g.112540622A>C (hg19) chr10:g.110780864A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780864A>C , CM000672.2:g.110780864A>C GRCh38
NC_000010.10:g.112540622A>C , CM000672.1:g.112540622A>C GRCh37
NC_000010.9:g.112530612A>C NCBI36
NG_021177.1:g.141468A>C , LRG_382:g.141468A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.255A>C MANE Select ENSP00000358532.3:p.Ser85=
ENST00000369519.3:c.255A>C ENSP00000358532.3:p.Ser85=
NM_001134363.2:c.255A>C NP_001127835.2:p.Ser85=
XM_011539697.1:c.-130A>C XP_011537999.1:n.-130A>C
XM_017016103.2:c.90A>C XP_016871592.1:p.Ser30=
XM_017016104.2:c.-130A>C XP_016871593.1:n.-130A>C
NM_001134363.3:c.255A>C MANE Select NP_001127835.2:p.Ser85=
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