Canonical Allele Identifier: CA4341915
Gene: RBM48 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.92534663A>G
GRCh37 chr7:g.92163977A>G
Revel Score:
ENST00000265732 (MANE Select) 0.010
ENST00000481551 0.010
ENST00000450580 0.010
gnomAD v2:
7:92163977 A / G
gnomAD v3:
7:92534663 A / G
gnomAD v4:
chr7-92534663-A-G
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar RCV:
RCV003114758
ClinVar Variation:
2417289
dbSNP:
762799928
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92534663A>G , CM000669.2:g.92534663A>G GRCh38
NC_000007.13:g.92163977A>G , CM000669.1:g.92163977A>G GRCh37
NC_000007.12:g.92001913A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265732.10:c.710A>G MANE Select ENSP00000265732.5:p.His237Arg
ENST00000265732.9:c.710A>G ENSP00000265732.5:p.His237Arg
ENST00000481551.5:c.710A>G ENSP00000419242.1:p.His237Arg
ENST00000617438.1:c.710A>G ENSP00000478040.1:p.His237Arg
NM_032120.2:c.710A>G NP_115496.2:p.His237Arg
XM_005250636.3:c.710A>G XP_005250693.1:p.His237Arg
XM_006716149.2:c.710A>G XP_006716212.1:p.His237Arg
XM_006716150.2:c.710A>G XP_006716213.1:p.His237Arg
NM_001363366.1:c.710A>G NP_001350295.1:p.His237Arg
NM_001363367.1:c.185A>G NP_001350296.1:p.His62Arg
NM_032120.3:c.710A>G NP_115496.2:p.His237Arg
XM_005250636.5:c.710A>G XP_005250693.1:p.His237Arg
XM_006716149.4:c.710A>G XP_006716212.1:p.His237Arg
NM_032120.4:c.710A>G MANE Select NP_115496.2:p.His237Arg
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