Canonical Allele Identifier: CA378370304
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 265814
ClinVar RCV Id: RCV000491360
dbSNP Id: rs1114167331

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812301C>G , CM000672.2:g.110812301C>G GRCh38
NC_000010.10:g.112572059C>G , CM000672.1:g.112572059C>G GRCh37
NC_000010.9:g.112562049C>G NCBI36
NG_021177.1:g.172905C>G , LRG_382:g.172905C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.1904C>G MANE Select ENSP00000358532.3:p.Ser635Cys
ENST00000369519.3:c.1904C>G ENSP00000358532.3:p.Ser635Cys
NM_001134363.2:c.1904C>G NP_001127835.2:p.Ser635Cys
XM_011539697.1:c.1520C>G XP_011537999.1:p.Ser507Cys
XM_017016103.2:c.1739C>G XP_016871592.1:p.Ser580Cys
XM_017016104.2:c.1520C>G XP_016871593.1:p.Ser507Cys
NM_001134363.3:c.1904C>G MANE Select NP_001127835.2:p.Ser635Cys