Canonical Allele Identifier: CA5487487
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028168
ClinVar RCV Id: RCV003889538
dbSNP Id: rs202162675
ExAC: 10:48389290 G / T
gnomAD v2: 10-48389290-G-T
gnomAD v3: 10-47350072-C-A
gnomAD v4: 10-47350072-C-A
MyVariant Identifiers: chr10:g.48389290G>T (hg19) chr10:g.47350072C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1588C>A MANE Select ENSP00000463151.1:p.Arg530Ser
ENST00000584701.1:c.1588C>A ENSP00000463151.1:p.Arg530Ser
NM_002900.2:c.1588C>A NP_002891.1:p.Arg530Ser
NM_002900.3:c.1588C>A MANE Select NP_002891.1:p.Arg530Ser
Search 100 bp 5'
Search 100 bp 3'