Canonical Allele Identifier: CA5688559

Gene: RBM20

Linked Data

• ClinVar Variation Id: 538023
• ClinVar RCV Id: RCV000647157 ; RCV001836856 ; RCV002458108
• dbSNP Id: rs777080028
• ExAC: 10:112541506 G / A
• gnomAD v2: 10-112541506-G-A
• gnomAD v3: 10-110781748-G-A
• gnomAD v4: 10-110781748-G-A
• COSMIC: COSM1637454
• MyVariant Identifiers: chr10:g.112541506G>A (hg19) ; chr10:g.110781748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781748G>A , CM000672.2:g.110781748G>A	GRCh38
NC_000010.10:g.112541506G>A , CM000672.1:g.112541506G>A	GRCh37
NC_000010.9:g.112531496G>A	NCBI36
NG_021177.1:g.142352G>A , LRG_382:g.142352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1139G>A MANE Select	ENSP00000358532.3:p.Arg380Gln
ENST00000369519.3:c.1139G>A	ENSP00000358532.3:p.Arg380Gln
NM_001134363.2:c.1139G>A	NP_001127835.2:p.Arg380Gln
XM_011539697.1:c.755G>A	XP_011537999.1:p.Arg252Gln
XM_017016103.2:c.974G>A	XP_016871592.1:p.Arg325Gln
XM_017016104.2:c.755G>A	XP_016871593.1:p.Arg252Gln
NM_001134363.3:c.1139G>A MANE Select	NP_001127835.2:p.Arg380Gln