Canonical Allele Identifier: CA5487478

Gene: RBP3

Linked Data

• ClinVar Variation Id: 2073489
• ClinVar RCV Id: RCV002944068 ; RCV002971924
• dbSNP Id: rs376714442
• ExAC: 10:48389260 G / A
• gnomAD v2: 10-48389260-G-A
• gnomAD v3: 10-47350102-C-T
• gnomAD v4: 10-47350102-C-T
• MyVariant Identifiers: chr10:g.48389260G>A (hg19) ; chr10:g.47350102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350102C>T , CM000672.2:g.47350102C>T	GRCh38
NC_000010.10:g.48389260G>A , CM000672.1:g.48389260G>A	GRCh37
NC_000010.9:g.48009266G>A	NCBI36
NG_029718.1:g.6732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1618C>T MANE Select	ENSP00000463151.1:p.Leu540Phe
ENST00000584701.1:c.1618C>T	ENSP00000463151.1:p.Leu540Phe
NM_002900.2:c.1618C>T	NP_002891.1:p.Leu540Phe
NM_002900.3:c.1618C>T MANE Select	NP_002891.1:p.Leu540Phe