Canonical Allele Identifier: CA5487430
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 839882
ClinVar RCV Id: RCV001041743
dbSNP Id: rs781947747
ExAC: 10:48389097 G / C
gnomAD v2: 10-48389097-G-C
gnomAD v3: 10-47350265-C-G
gnomAD v4: 10-47350265-C-G
MyVariant Identifiers: chr10:g.48389097G>C (hg19) chr10:g.47350265C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350265C>G , CM000672.2:g.47350265C>G GRCh38
NC_000010.10:g.48389097G>C , CM000672.1:g.48389097G>C GRCh37
NC_000010.9:g.48009103G>C NCBI36
NG_029718.1:g.6895C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1781C>G MANE Select ENSP00000463151.1:p.Pro594Arg
ENST00000584701.1:c.1781C>G ENSP00000463151.1:p.Pro594Arg
NM_002900.2:c.1781C>G NP_002891.1:p.Pro594Arg
NM_002900.3:c.1781C>G MANE Select NP_002891.1:p.Pro594Arg
Search 100 bp 5'
Search 100 bp 3'