Canonical Allele Identifier: CA5487486
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 879349
ClinVar RCV Id: RCV001106783 RCV001856430 RCV003890249 RCV004032121
dbSNP Id: rs202162675
ExAC: 10:48389290 G / A
gnomAD v2: 10-48389290-G-A
gnomAD v3: 10-47350072-C-T
gnomAD v4: 10-47350072-C-T
MyVariant Identifiers: chr10:g.48389290G>A (hg19) chr10:g.47350072C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350072C>T , CM000672.2:g.47350072C>T GRCh38
NC_000010.10:g.48389290G>A , CM000672.1:g.48389290G>A GRCh37
NC_000010.9:g.48009296G>A NCBI36
NG_029718.1:g.6702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1588C>T MANE Select ENSP00000463151.1:p.Arg530Cys
ENST00000584701.1:c.1588C>T ENSP00000463151.1:p.Arg530Cys
NM_002900.2:c.1588C>T NP_002891.1:p.Arg530Cys
NM_002900.3:c.1588C>T MANE Select NP_002891.1:p.Arg530Cys
Search 100 bp 5'
Search 100 bp 3'