Canonical Allele Identifier: CA350996

Gene: RBP3

Linked Data

• ClinVar Variation Id: 208307
• ClinVar RCV Id: RCV000206990 ; RCV001439041 ; RCV003937674
• dbSNP Id: rs148093336
• ExAC: 10:48389309 G / C
• gnomAD v2: 10-48389309-G-C
• gnomAD v3: 10-47350053-C-G
• gnomAD v4: 10-47350053-C-G
• MyVariant Identifiers: chr10:g.48389309G>C (hg19) ; chr10:g.47350053C>G (hg38)
• PubMed: PMID:19074801

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350053C>G , CM000672.2:g.47350053C>G	GRCh38
NC_000010.10:g.48389309G>C , CM000672.1:g.48389309G>C	GRCh37
NC_000010.9:g.48009315G>C	NCBI36
NG_029718.1:g.6683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1569C>G MANE Select	ENSP00000463151.1:p.His523Gln
ENST00000584701.1:c.1569C>G	ENSP00000463151.1:p.His523Gln
NM_002900.2:c.1569C>G	NP_002891.1:p.His523Gln
NM_002900.3:c.1569C>G MANE Select	NP_002891.1:p.His523Gln