Canonical Allele Identifier: CA5487611

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299990
• ClinVar RCV Id: RCV000397627 ; RCV000913373
• dbSNP Id: rs146487673
• ExAC: 10:48389795 C / G
• gnomAD v2: 10-48389795-C-G
• gnomAD v3: 10-47349567-G-C
• gnomAD v4: 10-47349567-G-C
• MyVariant Identifiers: chr10:g.48389795C>G (hg19) ; chr10:g.47349567G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349567G>C , CM000672.2:g.47349567G>C	GRCh38
NC_000010.10:g.48389795C>G , CM000672.1:g.48389795C>G	GRCh37
NC_000010.9:g.48009801C>G	NCBI36
NG_029718.1:g.6197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1083G>C MANE Select	ENSP00000463151.1:p.Thr361=
ENST00000584701.1:c.1083G>C	ENSP00000463151.1:p.Thr361=
NM_002900.2:c.1083G>C	NP_002891.1:p.Thr361=
NM_002900.3:c.1083G>C MANE Select	NP_002891.1:p.Thr361=