Canonical Allele Identifier: CA350996
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208307
dbSNP Id: rs148093336

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350053C>G , CM000672.2:g.47350053C>G GRCh38
NC_000010.10:g.48389309G>C , CM000672.1:g.48389309G>C GRCh37
NC_000010.9:g.48009315G>C NCBI36
NG_029718.1:g.6683C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1569C>G MANE Select ENSP00000463151.1:p.His523Gln
ENST00000584701.1:c.1569C>G ENSP00000463151.1:p.His523Gln
NM_002900.2:c.1569C>G NP_002891.1:p.His523Gln
NM_002900.3:c.1569C>G MANE Select NP_002891.1:p.His523Gln