Canonical Allele Identifier: CA5487435
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 878759
ClinVar RCV Id: RCV001105650 RCV002067783
dbSNP Id: rs139452142
ExAC: 10:48389102 G / A
gnomAD v2: 10-48389102-G-A
gnomAD v3: 10-47350260-C-T
gnomAD v4: 10-47350260-C-T
MyVariant Identifiers: chr10:g.48389102G>A (hg19) chr10:g.47350260C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350260C>T , CM000672.2:g.47350260C>T GRCh38
NC_000010.10:g.48389102G>A , CM000672.1:g.48389102G>A GRCh37
NC_000010.9:g.48009108G>A NCBI36
NG_029718.1:g.6890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1776C>T MANE Select ENSP00000463151.1:p.Thr592=
ENST00000584701.1:c.1776C>T ENSP00000463151.1:p.Thr592=
NM_002900.2:c.1776C>T NP_002891.1:p.Thr592=
NM_002900.3:c.1776C>T MANE Select NP_002891.1:p.Thr592=
Search 100 bp 5'
Search 100 bp 3'