Canonical Allele Identifier: CA376670872
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1518376
ClinVar RCV Id: RCV002021701
dbSNP Id: rs2132253945
gnomAD v4: 10-47350054-A-G
MyVariant Identifiers: chr10:g.48389308T>C (hg19) chr10:g.47350054A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350054A>G , CM000672.2:g.47350054A>G GRCh38
NC_000010.10:g.48389308T>C , CM000672.1:g.48389308T>C GRCh37
NC_000010.9:g.48009314T>C NCBI36
NG_029718.1:g.6684A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1570A>G MANE Select ENSP00000463151.1:p.Met524Val
ENST00000584701.1:c.1570A>G ENSP00000463151.1:p.Met524Val
NM_002900.2:c.1570A>G NP_002891.1:p.Met524Val
NM_002900.3:c.1570A>G MANE Select NP_002891.1:p.Met524Val
Search 100 bp 5'
Search 100 bp 3'