Canonical Allele Identifier: CA213234643
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1624200
ClinVar RCV Id: RCV002113822
dbSNP Id: rs921903094
gnomAD v2: 10-112540834-C-T
gnomAD v3: 10-110781076-C-T
gnomAD v4: 10-110781076-C-T
COSMIC: COSM465256
MyVariant Identifiers: chr10:g.112540834C>T (hg19) chr10:g.110781076C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781076C>T , CM000672.2:g.110781076C>T GRCh38
NC_000010.10:g.112540834C>T , CM000672.1:g.112540834C>T GRCh37
NC_000010.9:g.112530824C>T NCBI36
NG_021177.1:g.141680C>T , LRG_382:g.141680C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.467C>T MANE Select ENSP00000358532.3:p.Ala156Val
ENST00000369519.3:c.467C>T ENSP00000358532.3:p.Ala156Val
NM_001134363.2:c.467C>T NP_001127835.2:p.Ala156Val
XM_011539697.1:c.83C>T XP_011537999.1:p.Ala28Val
XM_017016103.2:c.302C>T XP_016871592.1:p.Ala101Val
XM_017016104.2:c.83C>T XP_016871593.1:p.Ala28Val
NM_001134363.3:c.467C>T MANE Select NP_001127835.2:p.Ala156Val
Search 100 bp 5'
Search 100 bp 3'