Canonical Allele Identifier: CA376671380
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2086734
ClinVar RCV Id: RCV003015560
gnomAD v4: 10-47350202-T-C
MyVariant Identifiers: chr10:g.48389160A>G (hg19) chr10:g.47350202T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350202T>C , CM000672.2:g.47350202T>C GRCh38
NC_000010.10:g.48389160A>G , CM000672.1:g.48389160A>G GRCh37
NC_000010.9:g.48009166A>G NCBI36
NG_029718.1:g.6832T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1718T>C MANE Select ENSP00000463151.1:p.Leu573Pro
ENST00000584701.1:c.1718T>C ENSP00000463151.1:p.Leu573Pro
NM_002900.2:c.1718T>C NP_002891.1:p.Leu573Pro
NM_002900.3:c.1718T>C MANE Select NP_002891.1:p.Leu573Pro
Search 100 bp 5'
Search 100 bp 3'