Canonical Allele Identifier: CA5487513
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419841
ClinVar RCV Id: RCV003115726
dbSNP Id: rs200509782
ExAC: 10:48389400 A / G
gnomAD v2: 10-48389400-A-G
gnomAD v3: 10-47349962-T-C
gnomAD v4: 10-47349962-T-C
MyVariant Identifiers: chr10:g.48389400A>G (hg19) chr10:g.47349962T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349962T>C , CM000672.2:g.47349962T>C GRCh38
NC_000010.10:g.48389400A>G , CM000672.1:g.48389400A>G GRCh37
NC_000010.9:g.48009406A>G NCBI36
NG_029718.1:g.6592T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1478T>C MANE Select ENSP00000463151.1:p.Leu493Pro
ENST00000584701.1:c.1478T>C ENSP00000463151.1:p.Leu493Pro
NM_002900.2:c.1478T>C NP_002891.1:p.Leu493Pro
NM_002900.3:c.1478T>C MANE Select NP_002891.1:p.Leu493Pro
Search 100 bp 5'
Search 100 bp 3'