Canonical Allele Identifier: CA234770

Gene: RBP3

Linked Data

• ClinVar Variation Id: 167571
• ClinVar RCV Id: RCV000153815 ; RCV000206960 ; RCV001105648
• dbSNP Id: rs149642039
• ExAC: 10:48389038 C / T
• gnomAD v2: 10-48389038-C-T
• gnomAD v3: 10-47350324-G-A
• gnomAD v4: 10-47350324-G-A
• MyVariant Identifiers: chr10:g.48389038C>T (hg19) ; chr10:g.47350324G>A (hg38)
• PubMed: PMID:19074801

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350324G>A , CM000672.2:g.47350324G>A	GRCh38
NC_000010.10:g.48389038C>T , CM000672.1:g.48389038C>T	GRCh37
NC_000010.9:g.48009044C>T	NCBI36
NG_029718.1:g.6954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1840G>A MANE Select	ENSP00000463151.1:p.Asp614Asn
ENST00000584701.1:c.1840G>A	ENSP00000463151.1:p.Asp614Asn
NM_002900.2:c.1840G>A	NP_002891.1:p.Asp614Asn
NM_002900.3:c.1840G>A MANE Select	NP_002891.1:p.Asp614Asn