Canonical Allele Identifier: CA469781553
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1973178
ClinVar RCV Id: RCV002731084
dbSNP Id: rs1555211236
gnomAD v2: 10-48389363-G-A
gnomAD v4: 10-47349999-C-T
MyVariant Identifiers: chr10:g.48389363G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349999C>T , CM000672.2:g.47349999C>T GRCh38
NC_000010.10:g.48389363G>A , CM000672.1:g.48389363G>A GRCh37
NC_000010.9:g.48009369G>A NCBI36
NG_029718.1:g.6629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1515C>T MANE Select ENSP00000463151.1:p.His505=
ENST00000584701.1:c.1515C>T ENSP00000463151.1:p.His505=
NM_002900.2:c.1515C>T NP_002891.1:p.His505=
NM_002900.3:c.1515C>T MANE Select NP_002891.1:p.His505=
Search 100 bp 5'
Search 100 bp 3'