Canonical Allele Identifier: CA469781460
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs2132253703
gnomAD v4: 10-47349852-G-A
MyVariant Identifiers: chr10:g.48389510C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349852G>A , CM000672.2:g.47349852G>A GRCh38
NC_000010.10:g.48389510C>T , CM000672.1:g.48389510C>T GRCh37
NC_000010.9:g.48009516C>T NCBI36
NG_029718.1:g.6482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1368G>A MANE Select ENSP00000463151.1:p.Leu456=
ENST00000584701.1:c.1368G>A ENSP00000463151.1:p.Leu456=
NM_002900.2:c.1368G>A NP_002891.1:p.Leu456=
NM_002900.3:c.1368G>A MANE Select NP_002891.1:p.Leu456=
Search 100 bp 5'
Search 100 bp 3'