Canonical Allele Identifier: CA350964
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208325
ClinVar RCV Id: RCV000206965 RCV001349416
dbSNP Id: rs782099994
ExAC: 10:48382068 G / A
gnomAD v2: 10-48382068-G-A
gnomAD v3: 10-47357294-C-T
gnomAD v4: 10-47357294-C-T
MyVariant Identifiers: chr10:g.48382068G>A (hg19) chr10:g.47357294C>T (hg38)
PubMed: PMID:19074801
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47357294C>T , CM000672.2:g.47357294C>T GRCh38
NC_000010.10:g.48382068G>A , CM000672.1:g.48382068G>A GRCh37
NC_000010.9:g.48002074G>A NCBI36
NG_029718.1:g.13924C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.3581C>T MANE Select ENSP00000463151.1:p.Thr1194Met
ENST00000584701.1:c.3581C>T ENSP00000463151.1:p.Thr1194Met
NM_002900.2:c.3581C>T NP_002891.1:p.Thr1194Met
NM_002900.3:c.3581C>T MANE Select NP_002891.1:p.Thr1194Met
Search 100 bp 5'
Search 100 bp 3'