Canonical Allele Identifier: CA5487462
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 299981
ClinVar RCV Id: RCV000317370 RCV001493698
dbSNP Id: rs372137106
ExAC: 10:48389204 C / T
gnomAD v2: 10-48389204-C-T
gnomAD v3: 10-47350158-G-A
gnomAD v4: 10-47350158-G-A
MyVariant Identifiers: chr10:g.48389204C>T (hg19) chr10:g.47350158G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350158G>A , CM000672.2:g.47350158G>A GRCh38
NC_000010.10:g.48389204C>T , CM000672.1:g.48389204C>T GRCh37
NC_000010.9:g.48009210C>T NCBI36
NG_029718.1:g.6788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1674G>A MANE Select ENSP00000463151.1:p.Ser558=
ENST00000584701.1:c.1674G>A ENSP00000463151.1:p.Ser558=
NM_002900.2:c.1674G>A NP_002891.1:p.Ser558=
NM_002900.3:c.1674G>A MANE Select NP_002891.1:p.Ser558=
Search 100 bp 5'
Search 100 bp 3'