Canonical Allele Identifier: CA185702
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 180045
ClinVar RCV Id: RCV000156848 RCV000766690 RCV001081755 RCV002415682
dbSNP Id: rs727505310
ExAC: 10:112572113 C / T
gnomAD v2: 10-112572113-C-T
gnomAD v3: 10-110812355-C-T
gnomAD v4: 10-110812355-C-T
MyVariant Identifiers: chr10:g.112572113C>T (hg19) chr10:g.110812355C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812355C>T , CM000672.2:g.110812355C>T GRCh38
NC_000010.10:g.112572113C>T , CM000672.1:g.112572113C>T GRCh37
NC_000010.9:g.112562103C>T NCBI36
NG_021177.1:g.172959C>T , LRG_382:g.172959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1958C>T MANE Select ENSP00000358532.3:p.Thr653Ile
ENST00000369519.3:c.1958C>T ENSP00000358532.3:p.Thr653Ile
NM_001134363.2:c.1958C>T NP_001127835.2:p.Thr653Ile
XM_011539697.1:c.1574C>T XP_011537999.1:p.Thr525Ile
XM_017016103.2:c.1793C>T XP_016871592.1:p.Thr598Ile
XM_017016104.2:c.1574C>T XP_016871593.1:p.Thr525Ile
NM_001134363.3:c.1958C>T MANE Select NP_001127835.2:p.Thr653Ile
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