Canonical Allele Identifier: CA378371071
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1474491
ClinVar RCV Id: RCV001973418
dbSNP Id: rs1387833836
gnomAD v2: 10-112572193-C-T
gnomAD v4: 10-110812435-C-T
MyVariant Identifiers: chr10:g.112572193C>T (hg19) chr10:g.110812435C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812435C>T , CM000672.2:g.110812435C>T GRCh38
NC_000010.10:g.112572193C>T , CM000672.1:g.112572193C>T GRCh37
NC_000010.9:g.112562183C>T NCBI36
NG_021177.1:g.173039C>T , LRG_382:g.173039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2038C>T MANE Select ENSP00000358532.3:p.Pro680Ser
ENST00000369519.3:c.2038C>T ENSP00000358532.3:p.Pro680Ser
NM_001134363.2:c.2038C>T NP_001127835.2:p.Pro680Ser
XM_011539697.1:c.1654C>T XP_011537999.1:p.Pro552Ser
XM_017016103.2:c.1873C>T XP_016871592.1:p.Pro625Ser
XM_017016104.2:c.1654C>T XP_016871593.1:p.Pro552Ser
NM_001134363.3:c.2038C>T MANE Select NP_001127835.2:p.Pro680Ser
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