Canonical Allele Identifier: CA376671223
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359621
ClinVar RCV Id: RCV001904458
dbSNP Id: rs1555211280
gnomAD v2: 10-48389208-T-A
gnomAD v3: 10-47350154-A-T
gnomAD v4: 10-47350154-A-T
MyVariant Identifiers: chr10:g.48389208T>A (hg19) chr10:g.47350154A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350154A>T , CM000672.2:g.47350154A>T GRCh38
NC_000010.10:g.48389208T>A , CM000672.1:g.48389208T>A GRCh37
NC_000010.9:g.48009214T>A NCBI36
NG_029718.1:g.6784A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1670A>T MANE Select ENSP00000463151.1:p.Gln557Leu
ENST00000584701.1:c.1670A>T ENSP00000463151.1:p.Gln557Leu
NM_002900.2:c.1670A>T NP_002891.1:p.Gln557Leu
NM_002900.3:c.1670A>T MANE Select NP_002891.1:p.Gln557Leu
Search 100 bp 5'
Search 100 bp 3'