Canonical Allele Identifier: CA350973

Gene: RBP3

Linked Data

• ClinVar Variation Id: 208313
• ClinVar RCV Id: RCV000206971 ; RCV001103700 ; RCV001172034
• dbSNP Id: rs200168559
• ExAC: 10:48388815 G / A
• gnomAD v2: 10-48388815-G-A
• gnomAD v3: 10-47350547-C-T
• gnomAD v4: 10-47350547-C-T
• MyVariant Identifiers: chr10:g.48388815G>A (hg19) ; chr10:g.47350547C>T (hg38)
• PubMed: PMID:19074801

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350547C>T , CM000672.2:g.47350547C>T	GRCh38
NC_000010.10:g.48388815G>A , CM000672.1:g.48388815G>A	GRCh37
NC_000010.9:g.48008821G>A	NCBI36
NG_029718.1:g.7177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2063C>T MANE Select	ENSP00000463151.1:p.Ala688Val
ENST00000584701.1:c.2063C>T	ENSP00000463151.1:p.Ala688Val
NM_002900.2:c.2063C>T	NP_002891.1:p.Ala688Val
NM_002900.3:c.2063C>T MANE Select	NP_002891.1:p.Ala688Val