Canonical Allele Identifier: CA177692

Gene: RBM20

Linked Data

• ClinVar Variation Id: 165022
• ClinVar RCV Id: RCV000151726 ; RCV000234343 ; RCV001699042 ; RCV002433654
• dbSNP Id: rs182768779
• ExAC: 10:112540647 C / T
• gnomAD v2: 10-112540647-C-T
• gnomAD v3: 10-110780889-C-T
• gnomAD v4: 10-110780889-C-T
• MyVariant Identifiers: chr10:g.112540647C>T (hg19) ; chr10:g.110780889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110780889C>T , CM000672.2:g.110780889C>T	GRCh38
NC_000010.10:g.112540647C>T , CM000672.1:g.112540647C>T	GRCh37
NC_000010.9:g.112530637C>T	NCBI36
NG_021177.1:g.141493C>T , LRG_382:g.141493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.280C>T MANE Select	ENSP00000358532.3:p.Leu94=
ENST00000369519.3:c.280C>T	ENSP00000358532.3:p.Leu94=
NM_001134363.2:c.280C>T	NP_001127835.2:p.Leu94=
XM_011539697.1:c.-105C>T	XP_011537999.1:n.-105C>T
XM_017016103.2:c.115C>T	XP_016871592.1:p.Leu39=
XM_017016104.2:c.-105C>T	XP_016871593.1:n.-105C>T
NM_001134363.3:c.280C>T MANE Select	NP_001127835.2:p.Leu94=