Canonical Allele Identifier: CA133399

Gene: RBM20

Linked Data

• ClinVar Variation Id: 44021
• ClinVar RCV Id: RCV000036996 ; RCV000770274 ; RCV001086084 ; RCV000724064 ; RCV003952426 ; RCV002345292
• dbSNP Id: rs397516621
• ExAC: 10:112540896 A / T
• gnomAD v2: 10-112540896-A-T
• gnomAD v3: 10-110781138-A-T
• gnomAD v4: 10-110781138-A-T
• MyVariant Identifiers: chr10:g.112540896A>T (hg19) ; chr10:g.110781138A>T (hg38)
• PubMed: PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781138A>T , CM000672.2:g.110781138A>T	GRCh38
NC_000010.10:g.112540896A>T , CM000672.1:g.112540896A>T	GRCh37
NC_000010.9:g.112530886A>T	NCBI36
NG_021177.1:g.141742A>T , LRG_382:g.141742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.529A>T MANE Select	ENSP00000358532.3:p.Thr177Ser
ENST00000369519.3:c.529A>T	ENSP00000358532.3:p.Thr177Ser
NM_001134363.2:c.529A>T	NP_001127835.2:p.Thr177Ser
XM_011539697.1:c.145A>T	XP_011537999.1:p.Thr49Ser
XM_017016103.2:c.364A>T	XP_016871592.1:p.Thr122Ser
XM_017016104.2:c.145A>T	XP_016871593.1:p.Thr49Ser
NM_001134363.3:c.529A>T MANE Select	NP_001127835.2:p.Thr177Ser