Canonical Allele Identifier: CA376669825
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3152581
ClinVar RCV Id: RCV004443500
dbSNP Id: rs1555211216
gnomAD v4: 10-47349928-C-G
MyVariant Identifiers: chr10:g.48389434G>C (hg19) chr10:g.47349928C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349928C>G , CM000672.2:g.47349928C>G GRCh38
NC_000010.10:g.48389434G>C , CM000672.1:g.48389434G>C GRCh37
NC_000010.9:g.48009440G>C NCBI36
NG_029718.1:g.6558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1444C>G MANE Select ENSP00000463151.1:p.Pro482Ala
ENST00000584701.1:c.1444C>G ENSP00000463151.1:p.Pro482Ala
NM_002900.2:c.1444C>G NP_002891.1:p.Pro482Ala
NM_002900.3:c.1444C>G MANE Select NP_002891.1:p.Pro482Ala
Search 100 bp 5'
Search 100 bp 3'