Canonical Allele Identifier: CA5487123
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 299954
ClinVar RCV Id: RCV000358605 RCV001454452
dbSNP Id: rs756128531
ExAC: 10:48385936 G / A
gnomAD v2: 10-48385936-G-A
gnomAD v3: 10-47353426-C-T
gnomAD v4: 10-47353426-C-T
MyVariant Identifiers: chr10:g.48385936G>A (hg19) chr10:g.47353426C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47353426C>T , CM000672.2:g.47353426C>T GRCh38
NC_000010.10:g.48385936G>A , CM000672.1:g.48385936G>A GRCh37
NC_000010.9:g.48005942G>A NCBI36
NG_029718.1:g.10056C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000584701.2:c.3156C>T MANE Select ENSP00000463151.1:p.Asp1052=
ENST00000584701.1:c.3156C>T ENSP00000463151.1:p.Asp1052=
NM_002900.2:c.3156C>T NP_002891.1:p.Asp1052=
NM_002900.3:c.3156C>T MANE Select NP_002891.1:p.Asp1052=
Search 100 bp 5'
Search 100 bp 3'