Canonical Allele Identifier: CA200435

Gene: RBP3

Linked Data

• ClinVar Variation Id: 193243
• ClinVar RCV Id: RCV000173291 ; RCV000206940 ; RCV000966383 ; RCV001103698 ; RCV003927582
• dbSNP Id: rs148247227
• ExAC: 10:48388710 G / A
• gnomAD v2: 10-48388710-G-A
• gnomAD v3: 10-47350652-C-T
• gnomAD v4: 10-47350652-C-T
• MyVariant Identifiers: chr10:g.48388710G>A (hg19) ; chr10:g.47350652C>T (hg38)
• PubMed: PMID:19074801

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350652C>T , CM000672.2:g.47350652C>T	GRCh38
NC_000010.10:g.48388710G>A , CM000672.1:g.48388710G>A	GRCh37
NC_000010.9:g.48008716G>A	NCBI36
NG_029718.1:g.7282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2168C>T MANE Select	ENSP00000463151.1:p.Pro723Leu
ENST00000584701.1:c.2168C>T	ENSP00000463151.1:p.Pro723Leu
NM_002900.2:c.2168C>T	NP_002891.1:p.Pro723Leu
NM_002900.3:c.2168C>T MANE Select	NP_002891.1:p.Pro723Leu