Canonical Allele Identifier: CA5487439

Gene: RBP3

Linked Data

• ClinVar Variation Id: 1020187
• ClinVar RCV Id: RCV001319728 ; RCV003294280
• dbSNP Id: rs142531022
• ExAC: 10:48389114 G / T
• gnomAD v2: 10-48389114-G-T
• gnomAD v3: 10-47350248-C-A
• gnomAD v4: 10-47350248-C-A
• MyVariant Identifiers: chr10:g.48389114G>T (hg19) ; chr10:g.47350248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350248C>A , CM000672.2:g.47350248C>A	GRCh38
NC_000010.10:g.48389114G>T , CM000672.1:g.48389114G>T	GRCh37
NC_000010.9:g.48009120G>T	NCBI36
NG_029718.1:g.6878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1764C>A MANE Select	ENSP00000463151.1:p.Ser588Arg
ENST00000584701.1:c.1764C>A	ENSP00000463151.1:p.Ser588Arg
NM_002900.2:c.1764C>A	NP_002891.1:p.Ser588Arg
NM_002900.3:c.1764C>A MANE Select	NP_002891.1:p.Ser588Arg