Canonical Allele Identifier: CA5487423

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299977
• ClinVar RCV Id: RCV000273913 ; RCV001429406 ; RCV001729517
• dbSNP Id: rs782049247
• ExAC: 10:48389072 G / A
• gnomAD v2: 10-48389072-G-A
• gnomAD v3: 10-47350290-C-T
• gnomAD v4: 10-47350290-C-T
• MyVariant Identifiers: chr10:g.48389072G>A (hg19) ; chr10:g.47350290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350290C>T , CM000672.2:g.47350290C>T	GRCh38
NC_000010.10:g.48389072G>A , CM000672.1:g.48389072G>A	GRCh37
NC_000010.9:g.48009078G>A	NCBI36
NG_029718.1:g.6920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1806C>T MANE Select	ENSP00000463151.1:p.His602=
ENST00000584701.1:c.1806C>T	ENSP00000463151.1:p.His602=
NM_002900.2:c.1806C>T	NP_002891.1:p.His602=
NM_002900.3:c.1806C>T MANE Select	NP_002891.1:p.His602=