Canonical Allele Identifier: CA5487473
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010107
ClinVar RCV Id: RCV001307688
dbSNP Id: rs782429876
ExAC: 10:48389242 C / T
gnomAD v2: 10-48389242-C-T
gnomAD v3: 10-47350120-G-A
gnomAD v4: 10-47350120-G-A
MyVariant Identifiers: chr10:g.48389242C>T (hg19) chr10:g.47350120G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350120G>A , CM000672.2:g.47350120G>A GRCh38
NC_000010.10:g.48389242C>T , CM000672.1:g.48389242C>T GRCh37
NC_000010.9:g.48009248C>T NCBI36
NG_029718.1:g.6750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1636G>A MANE Select ENSP00000463151.1:p.Ala546Thr
ENST00000584701.1:c.1636G>A ENSP00000463151.1:p.Ala546Thr
NM_002900.2:c.1636G>A NP_002891.1:p.Ala546Thr
NM_002900.3:c.1636G>A MANE Select NP_002891.1:p.Ala546Thr
Search 100 bp 5'
Search 100 bp 3'