Canonical Allele Identifier: CA5487830

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299996
• ClinVar RCV Id: RCV000304815 ; RCV001486186 ; RCV003957561
• dbSNP Id: rs376194840
• ExAC: 10:48390620 G / A
• gnomAD v2: 10-48390620-G-A
• gnomAD v3: 10-47348742-C-T
• gnomAD v4: 10-47348742-C-T
• MyVariant Identifiers: chr10:g.48390620G>A (hg19) ; chr10:g.47348742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47348742C>T , CM000672.2:g.47348742C>T	GRCh38
NC_000010.10:g.48390620G>A , CM000672.1:g.48390620G>A	GRCh37
NC_000010.9:g.48010626G>A	NCBI36
NG_029718.1:g.5372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.258C>T MANE Select	ENSP00000463151.1:p.Arg86=
ENST00000584701.1:c.258C>T	ENSP00000463151.1:p.Arg86=
NM_002900.2:c.258C>T	NP_002891.1:p.Arg86=
NM_002900.3:c.258C>T MANE Select	NP_002891.1:p.Arg86=