Canonical Allele Identifier: CA376672103
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985244
ClinVar RCV Id: RCV002761713
dbSNP Id: rs782605269
gnomAD v4: 10-47350602-C-G
MyVariant Identifiers: chr10:g.48388760G>C (hg19) chr10:g.47350602C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350602C>G , CM000672.2:g.47350602C>G GRCh38
NC_000010.10:g.48388760G>C , CM000672.1:g.48388760G>C GRCh37
NC_000010.9:g.48008766G>C NCBI36
NG_029718.1:g.7232C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2118C>G MANE Select ENSP00000463151.1:p.Gly706=
ENST00000584701.1:c.2118C>G ENSP00000463151.1:p.Gly706=
NM_002900.2:c.2118C>G NP_002891.1:p.Gly706=
NM_002900.3:c.2118C>G MANE Select NP_002891.1:p.Gly706=
Search 100 bp 5'
Search 100 bp 3'