Canonical Allele Identifier: CA5688653
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 538044
ClinVar RCV Id: RCV000647189 RCV002234083 RCV002406426
dbSNP Id: rs184428735
ExAC: 10:112572090 G / A
gnomAD v2: 10-112572090-G-A
gnomAD v3: 10-110812332-G-A
gnomAD v4: 10-110812332-G-A
MyVariant Identifiers: chr10:g.112572090G>A (hg19) chr10:g.110812332G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812332G>A , CM000672.2:g.110812332G>A GRCh38
NC_000010.10:g.112572090G>A , CM000672.1:g.112572090G>A GRCh37
NC_000010.9:g.112562080G>A NCBI36
NG_021177.1:g.172936G>A , LRG_382:g.172936G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1935G>A MANE Select ENSP00000358532.3:p.Pro645=
ENST00000369519.3:c.1935G>A ENSP00000358532.3:p.Pro645=
NM_001134363.2:c.1935G>A NP_001127835.2:p.Pro645=
XM_011539697.1:c.1551G>A XP_011537999.1:p.Pro517=
XM_017016103.2:c.1770G>A XP_016871592.1:p.Pro590=
XM_017016104.2:c.1551G>A XP_016871593.1:p.Pro517=
NM_001134363.3:c.1935G>A MANE Select NP_001127835.2:p.Pro645=
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