Canonical Allele Identifier: CA5487369
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs150902800
ExAC: 10:48388804 C / T
gnomAD v2: 10-48388804-C-T
gnomAD v3: 10-47350558-G-A
gnomAD v4: 10-47350558-G-A
MyVariant Identifiers: chr10:g.48388804C>T (hg19) chr10:g.47350558G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350558G>A , CM000672.2:g.47350558G>A GRCh38
NC_000010.10:g.48388804C>T , CM000672.1:g.48388804C>T GRCh37
NC_000010.9:g.48008810C>T NCBI36
NG_029718.1:g.7188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2074G>A MANE Select ENSP00000463151.1:p.Glu692Lys
ENST00000584701.1:c.2074G>A ENSP00000463151.1:p.Glu692Lys
NM_002900.2:c.2074G>A NP_002891.1:p.Glu692Lys
NM_002900.3:c.2074G>A MANE Select NP_002891.1:p.Glu692Lys
Search 100 bp 5'
Search 100 bp 3'