Canonical Allele Identifier: CA147601

Gene: RBP3

Linked Data

• ClinVar Variation Id: 94087
• ClinVar RCV Id: RCV000080036 ; RCV000206963 ; RCV000966384 ; RCV001106782 ; RCV003974966
• dbSNP Id: rs41284962
• ExAC: 10:48389247 C / T
• gnomAD v2: 10-48389247-C-T
• gnomAD v3: 10-47350115-G-A
• gnomAD v4: 10-47350115-G-A
• MyVariant Identifiers: chr10:g.48389247C>T (hg19) ; chr10:g.47350115G>A (hg38)
• PubMed: PMID:19074801 ; PMID:23891399 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350115G>A , CM000672.2:g.47350115G>A	GRCh38
NC_000010.10:g.48389247C>T , CM000672.1:g.48389247C>T	GRCh37
NC_000010.9:g.48009253C>T	NCBI36
NG_029718.1:g.6745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1631G>A MANE Select	ENSP00000463151.1:p.Arg544His
ENST00000584701.1:c.1631G>A	ENSP00000463151.1:p.Arg544His
NM_002900.2:c.1631G>A	NP_002891.1:p.Arg544His
NM_002900.3:c.1631G>A MANE Select	NP_002891.1:p.Arg544His