Canonical Allele Identifier: CA350922

Gene: RBP3

Linked Data

• ClinVar Variation Id: 208310
• ClinVar RCV Id: RCV000206927 ; RCV000371593 ; RCV001105649 ; RCV003917725
• dbSNP Id: rs144289912
• ExAC: 10:48389083 T / C
• gnomAD v2: 10-48389083-T-C
• gnomAD v3: 10-47350279-A-G
• gnomAD v4: 10-47350279-A-G
• MyVariant Identifiers: chr10:g.48389083T>C (hg19) ; chr10:g.47350279A>G (hg38)
• PubMed: PMID:19074801 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350279A>G , CM000672.2:g.47350279A>G	GRCh38
NC_000010.10:g.48389083T>C , CM000672.1:g.48389083T>C	GRCh37
NC_000010.9:g.48009089T>C	NCBI36
NG_029718.1:g.6909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1795A>G MANE Select	ENSP00000463151.1:p.Ile599Val
ENST00000584701.1:c.1795A>G	ENSP00000463151.1:p.Ile599Val
NM_002900.2:c.1795A>G	NP_002891.1:p.Ile599Val
NM_002900.3:c.1795A>G MANE Select	NP_002891.1:p.Ile599Val