Canonical Allele Identifier: CA5487511
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 844405
ClinVar RCV Id: RCV001047243 RCV004031464
dbSNP Id: rs139222112
ExAC: 10:48389388 T / C
gnomAD v2: 10-48389388-T-C
gnomAD v3: 10-47349974-A-G
gnomAD v4: 10-47349974-A-G
MyVariant Identifiers: chr10:g.48389388T>C (hg19) chr10:g.47349974A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349974A>G , CM000672.2:g.47349974A>G GRCh38
NC_000010.10:g.48389388T>C , CM000672.1:g.48389388T>C GRCh37
NC_000010.9:g.48009394T>C NCBI36
NG_029718.1:g.6604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1490A>G MANE Select ENSP00000463151.1:p.Gln497Arg
ENST00000584701.1:c.1490A>G ENSP00000463151.1:p.Gln497Arg
NM_002900.2:c.1490A>G NP_002891.1:p.Gln497Arg
NM_002900.3:c.1490A>G MANE Select NP_002891.1:p.Gln497Arg
Search 100 bp 5'
Search 100 bp 3'