Canonical Allele Identifier: CA469782124
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs2132254599
MyVariant Identifiers: chr10:g.48388799C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350563G>C , CM000672.2:g.47350563G>C GRCh38
NC_000010.10:g.48388799C>G , CM000672.1:g.48388799C>G GRCh37
NC_000010.9:g.48008805C>G NCBI36
NG_029718.1:g.7193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2079G>C MANE Select ENSP00000463151.1:p.Val693=
ENST00000584701.1:c.2079G>C ENSP00000463151.1:p.Val693=
NM_002900.2:c.2079G>C NP_002891.1:p.Val693=
NM_002900.3:c.2079G>C MANE Select NP_002891.1:p.Val693=