Canonical Allele Identifier: CA5487188

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299958
• ClinVar RCV Id: RCV000269261 ; RCV001422700
• dbSNP Id: rs377374761
• ExAC: 10:48388007 C / A
• gnomAD v2: 10-48388007-C-A
• gnomAD v3: 10-47351355-G-T
• gnomAD v4: 10-47351355-G-T
• MyVariant Identifiers: chr10:g.48388007C>A (hg19) ; chr10:g.47351355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47351355G>T , CM000672.2:g.47351355G>T	GRCh38
NC_000010.10:g.48388007C>A , CM000672.1:g.48388007C>A	GRCh37
NC_000010.9:g.48008013C>A	NCBI36
NG_029718.1:g.7985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2871G>T MANE Select	ENSP00000463151.1:p.Leu957=
ENST00000584701.1:c.2871G>T	ENSP00000463151.1:p.Leu957=
NM_002900.2:c.2871G>T	NP_002891.1:p.Leu957=
NM_002900.3:c.2871G>T MANE Select	NP_002891.1:p.Leu957=