Canonical Allele Identifier: CA5487360
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1952123
ClinVar RCV Id: RCV002676745
dbSNP Id: rs781920668
ExAC: 10:48388777 C / G
gnomAD v2: 10-48388777-C-G
gnomAD v3: 10-47350585-G-C
gnomAD v4: 10-47350585-G-C
MyVariant Identifiers: chr10:g.48388777C>G (hg19) chr10:g.47350585G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350585G>C , CM000672.2:g.47350585G>C GRCh38
NC_000010.10:g.48388777C>G , CM000672.1:g.48388777C>G GRCh37
NC_000010.9:g.48008783C>G NCBI36
NG_029718.1:g.7215G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2101G>C MANE Select ENSP00000463151.1:p.Val701Leu
ENST00000584701.1:c.2101G>C ENSP00000463151.1:p.Val701Leu
NM_002900.2:c.2101G>C NP_002891.1:p.Val701Leu
NM_002900.3:c.2101G>C MANE Select NP_002891.1:p.Val701Leu
Search 100 bp 5'
Search 100 bp 3'