Canonical Allele Identifier: CA5487122
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 862172
ClinVar RCV Id: RCV001068846 RCV002555873
dbSNP Id: rs140160521
ExAC: 10:48385935 C / T
gnomAD v2: 10-48385935-C-T
gnomAD v3: 10-47353427-G-A
gnomAD v4: 10-47353427-G-A
MyVariant Identifiers: chr10:g.48385935C>T (hg19) chr10:g.47353427G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47353427G>A , CM000672.2:g.47353427G>A GRCh38
NC_000010.10:g.48385935C>T , CM000672.1:g.48385935C>T GRCh37
NC_000010.9:g.48005941C>T NCBI36
NG_029718.1:g.10057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.3157G>A MANE Select ENSP00000463151.1:p.Gly1053Ser
ENST00000584701.1:c.3157G>A ENSP00000463151.1:p.Gly1053Ser
NM_002900.2:c.3157G>A NP_002891.1:p.Gly1053Ser
NM_002900.3:c.3157G>A MANE Select NP_002891.1:p.Gly1053Ser
Search 100 bp 5'
Search 100 bp 3'