Canonical Allele Identifier: CA378370535
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367597
ClinVar RCV Id: RCV001947367 RCV002422929 RCV003401801
dbSNP Id: rs1275195637
gnomAD v2: 10-112572115-T-C
gnomAD v3: 10-110812357-T-C
gnomAD v4: 10-110812357-T-C
MyVariant Identifiers: chr10:g.112572115T>C (hg19) chr10:g.110812357T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812357T>C , CM000672.2:g.110812357T>C GRCh38
NC_000010.10:g.112572115T>C , CM000672.1:g.112572115T>C GRCh37
NC_000010.9:g.112562105T>C NCBI36
NG_021177.1:g.172961T>C , LRG_382:g.172961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1960T>C MANE Select ENSP00000358532.3:p.Ser654Pro
ENST00000369519.3:c.1960T>C ENSP00000358532.3:p.Ser654Pro
NM_001134363.2:c.1960T>C NP_001127835.2:p.Ser654Pro
XM_011539697.1:c.1576T>C XP_011537999.1:p.Ser526Pro
XM_017016103.2:c.1795T>C XP_016871592.1:p.Ser599Pro
XM_017016104.2:c.1576T>C XP_016871593.1:p.Ser526Pro
NM_001134363.3:c.1960T>C MANE Select NP_001127835.2:p.Ser654Pro
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