Canonical Allele Identifier: CA5487434

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299978
• ClinVar RCV Id: RCV000331213 ; RCV000916692
• dbSNP Id: rs139452142
• ExAC: 10:48389102 G / C
• gnomAD v2: 10-48389102-G-C
• gnomAD v3: 10-47350260-C-G
• gnomAD v4: 10-47350260-C-G
• MyVariant Identifiers: chr10:g.48389102G>C (hg19) ; chr10:g.47350260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350260C>G , CM000672.2:g.47350260C>G	GRCh38
NC_000010.10:g.48389102G>C , CM000672.1:g.48389102G>C	GRCh37
NC_000010.9:g.48009108G>C	NCBI36
NG_029718.1:g.6890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1776C>G MANE Select	ENSP00000463151.1:p.Thr592=
ENST00000584701.1:c.1776C>G	ENSP00000463151.1:p.Thr592=
NM_002900.2:c.1776C>G	NP_002891.1:p.Thr592=
NM_002900.3:c.1776C>G MANE Select	NP_002891.1:p.Thr592=