Canonical Allele Identifier: CA351026
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208309
ClinVar RCV Id: RCV000207015
dbSNP Id: rs782233167

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350262T>C , CM000672.2:g.47350262T>C GRCh38
NC_000010.10:g.48389100A>G , CM000672.1:g.48389100A>G GRCh37
NC_000010.9:g.48009106A>G NCBI36
NG_029718.1:g.6892T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000584701.2:c.1778T>C MANE Select ENSP00000463151.1:p.Val593Ala
ENST00000584701.1:c.1778T>C ENSP00000463151.1:p.Val593Ala
NM_002900.2:c.1778T>C NP_002891.1:p.Val593Ala
NM_002900.3:c.1778T>C MANE Select NP_002891.1:p.Val593Ala