Canonical Allele Identifier: CA238754
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 193241
ClinVar RCV Id: RCV000173289 RCV000206920 RCV001107413
dbSNP Id: rs201808774
ExAC: 10:48389364 T / A
gnomAD v2: 10-48389364-T-A
gnomAD v3: 10-47349998-A-T
gnomAD v4: 10-47349998-A-T
MyVariant Identifiers: chr10:g.48389364T>A (hg19) chr10:g.47349998A>T (hg38)
PubMed: PMID:19074801
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349998A>T , CM000672.2:g.47349998A>T GRCh38
NC_000010.10:g.48389364T>A , CM000672.1:g.48389364T>A GRCh37
NC_000010.9:g.48009370T>A NCBI36
NG_029718.1:g.6628A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1514A>T MANE Select ENSP00000463151.1:p.His505Leu
ENST00000584701.1:c.1514A>T ENSP00000463151.1:p.His505Leu
NM_002900.2:c.1514A>T NP_002891.1:p.His505Leu
NM_002900.3:c.1514A>T MANE Select NP_002891.1:p.His505Leu
Search 100 bp 5'
Search 100 bp 3'