Canonical Allele Identifier: CA5688691
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 934148
ClinVar RCV Id: RCV001202488
dbSNP Id: rs544407865
ExAC: 10:112572583 A / G
gnomAD v2: 10-112572583-A-G
gnomAD v3: 10-110812825-A-G
gnomAD v4: 10-110812825-A-G
COSMIC: COSM4986643
MyVariant Identifiers: chr10:g.112572583A>G (hg19) chr10:g.110812825A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812825A>G , CM000672.2:g.110812825A>G GRCh38
NC_000010.10:g.112572583A>G , CM000672.1:g.112572583A>G GRCh37
NC_000010.9:g.112562573A>G NCBI36
NG_021177.1:g.173429A>G , LRG_382:g.173429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2428A>G MANE Select ENSP00000358532.3:p.Lys810Glu
ENST00000369519.3:c.2428A>G ENSP00000358532.3:p.Lys810Glu
NM_001134363.2:c.2428A>G NP_001127835.2:p.Lys810Glu
XM_011539697.1:c.2044A>G XP_011537999.1:p.Lys682Glu
XM_017016103.2:c.2263A>G XP_016871592.1:p.Lys755Glu
XM_017016104.2:c.2044A>G XP_016871593.1:p.Lys682Glu
NM_001134363.3:c.2428A>G MANE Select NP_001127835.2:p.Lys810Glu
Search 100 bp 5'
Search 100 bp 3'