Canonical Allele Identifier: CA10635770
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 299980
ClinVar RCV Id: RCV000259849
dbSNP Id: rs886047021

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350226T>A , CM000672.2:g.47350226T>A GRCh38
NC_000010.10:g.48389136A>T , CM000672.1:g.48389136A>T GRCh37
NC_000010.9:g.48009142A>T NCBI36
NG_029718.1:g.6856T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1742T>A MANE Select ENSP00000463151.1:p.Leu581Gln
ENST00000584701.1:c.1742T>A ENSP00000463151.1:p.Leu581Gln
NM_002900.2:c.1742T>A NP_002891.1:p.Leu581Gln
NM_002900.3:c.1742T>A MANE Select NP_002891.1:p.Leu581Gln