Canonical Allele Identifier: CA378371132
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 2418183
ClinVar RCV Id: RCV003118292
dbSNP Id: rs1844781705
gnomAD v4: 10-110812444-A-G
MyVariant Identifiers: chr10:g.112572202A>G (hg19) chr10:g.110812444A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812444A>G , CM000672.2:g.110812444A>G GRCh38
NC_000010.10:g.112572202A>G , CM000672.1:g.112572202A>G GRCh37
NC_000010.9:g.112562192A>G NCBI36
NG_021177.1:g.173048A>G , LRG_382:g.173048A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2047A>G MANE Select ENSP00000358532.3:p.Arg683Gly
ENST00000369519.3:c.2047A>G ENSP00000358532.3:p.Arg683Gly
NM_001134363.2:c.2047A>G NP_001127835.2:p.Arg683Gly
XM_011539697.1:c.1663A>G XP_011537999.1:p.Arg555Gly
XM_017016103.2:c.1882A>G XP_016871592.1:p.Arg628Gly
XM_017016104.2:c.1663A>G XP_016871593.1:p.Arg555Gly
NM_001134363.3:c.2047A>G MANE Select NP_001127835.2:p.Arg683Gly
Search 100 bp 5'
Search 100 bp 3'