Canonical Allele Identifier: CA5487372
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500159
ClinVar RCV Id: RCV002042517
dbSNP Id: rs782184079
ExAC: 10:48388845 T / C
gnomAD v2: 10-48388845-T-C
gnomAD v3: 10-47350517-A-G
gnomAD v4: 10-47350517-A-G
MyVariant Identifiers: chr10:g.48388845T>C (hg19) chr10:g.47350517A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350517A>G , CM000672.2:g.47350517A>G GRCh38
NC_000010.10:g.48388845T>C , CM000672.1:g.48388845T>C GRCh37
NC_000010.9:g.48008851T>C NCBI36
NG_029718.1:g.7147A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2033A>G MANE Select ENSP00000463151.1:p.Asp678Gly
ENST00000584701.1:c.2033A>G ENSP00000463151.1:p.Asp678Gly
NM_002900.2:c.2033A>G NP_002891.1:p.Asp678Gly
NM_002900.3:c.2033A>G MANE Select NP_002891.1:p.Asp678Gly
Search 100 bp 5'
Search 100 bp 3'