Canonical Allele Identifier: CA5487451

Gene: RBP3

Linked Data

• ClinVar Variation Id: 853338
• ClinVar RCV Id: RCV001058126 ; RCV004031837
• dbSNP Id: rs782234227
• ExAC: 10:48389145 G / T
• gnomAD v2: 10-48389145-G-T
• gnomAD v3: 10-47350217-C-A
• gnomAD v4: 10-47350217-C-A
• MyVariant Identifiers: chr10:g.48389145G>T (hg19) ; chr10:g.47350217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350217C>A , CM000672.2:g.47350217C>A	GRCh38
NC_000010.10:g.48389145G>T , CM000672.1:g.48389145G>T	GRCh37
NC_000010.9:g.48009151G>T	NCBI36
NG_029718.1:g.6847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1733C>A MANE Select	ENSP00000463151.1:p.Thr578Lys
ENST00000584701.1:c.1733C>A	ENSP00000463151.1:p.Thr578Lys
NM_002900.2:c.1733C>A	NP_002891.1:p.Thr578Lys
NM_002900.3:c.1733C>A MANE Select	NP_002891.1:p.Thr578Lys