Canonical Allele Identifier: CA206461846
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486390
ClinVar RCV Id: RCV002003559
dbSNP Id: rs923340055
gnomAD v2: 10-48389454-A-G
gnomAD v3: 10-47349908-T-C
gnomAD v4: 10-47349908-T-C
MyVariant Identifiers: chr10:g.48389454A>G (hg19) chr10:g.47349908T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349908T>C , CM000672.2:g.47349908T>C GRCh38
NC_000010.10:g.48389454A>G , CM000672.1:g.48389454A>G GRCh37
NC_000010.9:g.48009460A>G NCBI36
NG_029718.1:g.6538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1424T>C MANE Select ENSP00000463151.1:p.Ile475Thr
ENST00000584701.1:c.1424T>C ENSP00000463151.1:p.Ile475Thr
NM_002900.2:c.1424T>C NP_002891.1:p.Ile475Thr
NM_002900.3:c.1424T>C MANE Select NP_002891.1:p.Ile475Thr
Search 100 bp 5'
Search 100 bp 3'