Canonical Allele Identifier: CA5486997

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299951
• ClinVar RCV Id: RCV000336564 ; RCV001514049 ; RCV003888710
• dbSNP Id: rs147796755
• ExAC: 10:48382014 G / A
• gnomAD v2: 10-48382014-G-A
• gnomAD v3: 10-47357348-C-T
• gnomAD v4: 10-47357348-C-T
• MyVariant Identifiers: chr10:g.48382014G>A (hg19) ; chr10:g.47357348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47357348C>T , CM000672.2:g.47357348C>T	GRCh38
NC_000010.10:g.48382014G>A , CM000672.1:g.48382014G>A	GRCh37
NC_000010.9:g.48002020G>A	NCBI36
NG_029718.1:g.13978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.3635C>T MANE Select	ENSP00000463151.1:p.Thr1212Ile
ENST00000584701.1:c.3635C>T	ENSP00000463151.1:p.Thr1212Ile
NM_002900.2:c.3635C>T	NP_002891.1:p.Thr1212Ile
NM_002900.3:c.3635C>T MANE Select	NP_002891.1:p.Thr1212Ile