Canonical Allele Identifier: CA469781516
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1550078
ClinVar RCV Id: RCV002175230
dbSNP Id: rs1187786045
gnomAD v2: 10-48389417-A-G
gnomAD v3: 10-47349945-T-C
gnomAD v4: 10-47349945-T-C
MyVariant Identifiers: chr10:g.48389417A>G (hg19) chr10:g.47349945T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349945T>C , CM000672.2:g.47349945T>C GRCh38
NC_000010.10:g.48389417A>G , CM000672.1:g.48389417A>G GRCh37
NC_000010.9:g.48009423A>G NCBI36
NG_029718.1:g.6575T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1461T>C MANE Select ENSP00000463151.1:p.Ser487=
ENST00000584701.1:c.1461T>C ENSP00000463151.1:p.Ser487=
NM_002900.2:c.1461T>C NP_002891.1:p.Ser487=
NM_002900.3:c.1461T>C MANE Select NP_002891.1:p.Ser487=
Search 100 bp 5'
Search 100 bp 3'