Canonical Allele Identifier: CA238754

Gene: RBP3

Linked Data

• ClinVar Variation Id: 193241
• ClinVar RCV Id: RCV000173289 ; RCV000206920 ; RCV001107413
• dbSNP Id: rs201808774
• ExAC: 10:48389364 T / A
• gnomAD v2: 10-48389364-T-A
• gnomAD v3: 10-47349998-A-T
• gnomAD v4: 10-47349998-A-T
• MyVariant Identifiers: chr10:g.48389364T>A (hg19) ; chr10:g.47349998A>T (hg38)
• PubMed: PMID:19074801

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349998A>T , CM000672.2:g.47349998A>T	GRCh38
NC_000010.10:g.48389364T>A , CM000672.1:g.48389364T>A	GRCh37
NC_000010.9:g.48009370T>A	NCBI36
NG_029718.1:g.6628A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1514A>T MANE Select	ENSP00000463151.1:p.His505Leu
ENST00000584701.1:c.1514A>T	ENSP00000463151.1:p.His505Leu
NM_002900.2:c.1514A>T	NP_002891.1:p.His505Leu
NM_002900.3:c.1514A>T MANE Select	NP_002891.1:p.His505Leu