Canonical Allele Identifier: CA350973
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208313
ClinVar RCV Id: RCV000206971 RCV001103700 RCV001172034
dbSNP Id: rs200168559
ExAC: 10:48388815 G / A
gnomAD v2: 10-48388815-G-A
gnomAD v3: 10-47350547-C-T
gnomAD v4: 10-47350547-C-T
MyVariant Identifiers: chr10:g.48388815G>A (hg19) chr10:g.47350547C>T (hg38)
PubMed: PMID:19074801
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350547C>T , CM000672.2:g.47350547C>T GRCh38
NC_000010.10:g.48388815G>A , CM000672.1:g.48388815G>A GRCh37
NC_000010.9:g.48008821G>A NCBI36
NG_029718.1:g.7177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2063C>T MANE Select ENSP00000463151.1:p.Ala688Val
ENST00000584701.1:c.2063C>T ENSP00000463151.1:p.Ala688Val
NM_002900.2:c.2063C>T NP_002891.1:p.Ala688Val
NM_002900.3:c.2063C>T MANE Select NP_002891.1:p.Ala688Val
Search 100 bp 5'
Search 100 bp 3'