Canonical Allele Identifier: CA6808879
Gene: RBM19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.113950094C>T
GRCh37 chr12:g.114387899C>T
Revel Score:
ENST00000545145 0.141
ENST00000392561 0.141
ENST00000261741 (MANE Select) 0.141
gnomAD v2:
12:114387899 C / T
gnomAD v3:
12:113950094 C / T
gnomAD v4:
chr12-113950094-C-T
Joint Max Group AF 0.00002085 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002094 (NFE)
ClinVar RCV:
RCV004223280
ClinVar Variation:
2380921
dbSNP:
199576221
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.113950094C>T , CM000674.2:g.113950094C>T GRCh38
NC_000012.11:g.114387899C>T , CM000674.1:g.114387899C>T GRCh37
NC_000012.10:g.112872282C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261741.10:c.1061G>A MANE Select ENSP00000261741.5:p.Arg354Gln
ENST00000261741.9:c.1061G>A ENSP00000261741.5:p.Arg354Gln
ENST00000392561.7:c.1061G>A ENSP00000376344.3:p.Arg354Gln
ENST00000545145.6:c.1061G>A ENSP00000442053.2:p.Arg354Gln
NM_001146698.1:c.1061G>A NP_001140170.1:p.Arg354Gln
NM_001146699.1:c.1061G>A NP_001140171.1:p.Arg354Gln
NM_016196.3:c.1061G>A NP_057280.2:p.Arg354Gln
XM_011539038.1:c.1001-1058G>A XP_011537340.1:n.1001-1058G>A
XR_944848.1:n.1178G>A
XM_017020280.1:c.1001-1058G>A XP_016875769.1:n.1001-1058G>A
XM_017020281.1:c.1001-1058G>A XP_016875770.1:n.1001-1058G>A
XR_001748932.1:n.1145-1058G>A
XR_944848.2:n.1205G>A
NM_016196.4:c.1061G>A MANE Select NP_057280.2:p.Arg354Gln
NM_001146698.2:c.1061G>A NP_001140170.1:p.Arg354Gln
NM_001146699.2:c.1061G>A NP_001140171.1:p.Arg354Gln
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