Canonical Allele Identifier: CA5487351
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 299969
ClinVar RCV Id: RCV001321364 RCV002520588 RCV000282751
dbSNP Id: rs782171257
ExAC: 10:48388753 C / A
gnomAD v2: 10-48388753-C-A
gnomAD v3: 10-47350609-G-T
gnomAD v4: 10-47350609-G-T
MyVariant Identifiers: chr10:g.48388753C>A (hg19) chr10:g.47350609G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350609G>T , CM000672.2:g.47350609G>T GRCh38
NC_000010.10:g.48388753C>A , CM000672.1:g.48388753C>A GRCh37
NC_000010.9:g.48008759C>A NCBI36
NG_029718.1:g.7239G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2125G>T MANE Select ENSP00000463151.1:p.Val709Leu
ENST00000584701.1:c.2125G>T ENSP00000463151.1:p.Val709Leu
NM_002900.2:c.2125G>T NP_002891.1:p.Val709Leu
NM_002900.3:c.2125G>T MANE Select NP_002891.1:p.Val709Leu
Search 100 bp 5'
Search 100 bp 3'