Canonical Allele Identifier: CA5486984

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299950
• ClinVar RCV Id: RCV000297928 ; RCV001479563 ; RCV003888709
• dbSNP Id: rs3740296
• ExAC: 10:48381942 C / T
• gnomAD v2: 10-48381942-C-T
• gnomAD v3: 10-47357420-G-A
• gnomAD v4: 10-47357420-G-A
• MyVariant Identifiers: chr10:g.48381942C>T (hg19) ; chr10:g.47357420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47357420G>A , CM000672.2:g.47357420G>A	GRCh38
NC_000010.10:g.48381942C>T , CM000672.1:g.48381942C>T	GRCh37
NC_000010.9:g.48001948C>T	NCBI36
NG_029718.1:g.14050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.3707G>A MANE Select	ENSP00000463151.1:p.Arg1236Lys
ENST00000584701.1:c.3707G>A	ENSP00000463151.1:p.Arg1236Lys
NM_002900.2:c.3707G>A	NP_002891.1:p.Arg1236Lys
NM_002900.3:c.3707G>A MANE Select	NP_002891.1:p.Arg1236Lys