Canonical Allele Identifier: CA376670195
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497904
ClinVar RCV Id: RCV000598398
dbSNP Id: rs782041794
gnomAD v2: 10-48389344-G-A
gnomAD v3: 10-47350018-C-T
gnomAD v4: 10-47350018-C-T
MyVariant Identifiers: chr10:g.48389344G>A (hg19) chr10:g.47350018C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350018C>T , CM000672.2:g.47350018C>T GRCh38
NC_000010.10:g.48389344G>A , CM000672.1:g.48389344G>A GRCh37
NC_000010.9:g.48009350G>A NCBI36
NG_029718.1:g.6648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1534C>T MANE Select ENSP00000463151.1:p.Arg512Cys
ENST00000584701.1:c.1534C>T ENSP00000463151.1:p.Arg512Cys
NM_002900.2:c.1534C>T NP_002891.1:p.Arg512Cys
NM_002900.3:c.1534C>T MANE Select NP_002891.1:p.Arg512Cys
Search 100 bp 5'
Search 100 bp 3'