Canonical Allele Identifier: CA5487678

Gene: RBP3

Linked Data

• ClinVar Variation Id: 498009
• ClinVar RCV Id: RCV000594133 ; RCV000888334 ; RCV001106850 ; RCV003889929
• dbSNP Id: rs35186791
• ExAC: 10:48390035 G / A
• gnomAD v2: 10-48390035-G-A
• gnomAD v3: 10-47349327-C-T
• gnomAD v4: 10-47349327-C-T
• MyVariant Identifiers: chr10:g.48390035G>A (hg19) ; chr10:g.47349327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47349327C>T , CM000672.2:g.47349327C>T	GRCh38
NC_000010.10:g.48390035G>A , CM000672.1:g.48390035G>A	GRCh37
NC_000010.9:g.48010041G>A	NCBI36
NG_029718.1:g.5957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.843C>T MANE Select	ENSP00000463151.1:p.Pro281=
ENST00000584701.1:c.843C>T	ENSP00000463151.1:p.Pro281=
NM_002900.2:c.843C>T	NP_002891.1:p.Pro281=
NM_002900.3:c.843C>T MANE Select	NP_002891.1:p.Pro281=