Canonical Allele Identifier: CA206461828
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017163
ClinVar RCV Id: RCV001316277
dbSNP Id: rs976101975
gnomAD v4: 10-47349898-G-A
MyVariant Identifiers: chr10:g.48389464C>T (hg19) chr10:g.47349898G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349898G>A , CM000672.2:g.47349898G>A GRCh38
NC_000010.10:g.48389464C>T , CM000672.1:g.48389464C>T GRCh37
NC_000010.9:g.48009470C>T NCBI36
NG_029718.1:g.6528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1414G>A MANE Select ENSP00000463151.1:p.Glu472Lys
ENST00000584701.1:c.1414G>A ENSP00000463151.1:p.Glu472Lys
NM_002900.2:c.1414G>A NP_002891.1:p.Glu472Lys
NM_002900.3:c.1414G>A MANE Select NP_002891.1:p.Glu472Lys
Search 100 bp 5'
Search 100 bp 3'