Canonical Allele Identifier: CA5487345
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359638
ClinVar RCV Id: RCV001904466
dbSNP Id: rs781813519
ExAC: 10:48388726 G / T
gnomAD v2: 10-48388726-G-T
gnomAD v3: 10-47350636-C-A
gnomAD v4: 10-47350636-C-A
MyVariant Identifiers: chr10:g.48388726G>T (hg19) chr10:g.47350636C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350636C>A , CM000672.2:g.47350636C>A GRCh38
NC_000010.10:g.48388726G>T , CM000672.1:g.48388726G>T GRCh37
NC_000010.9:g.48008732G>T NCBI36
NG_029718.1:g.7266C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2152C>A MANE Select ENSP00000463151.1:p.Pro718Thr
ENST00000584701.1:c.2152C>A ENSP00000463151.1:p.Pro718Thr
NM_002900.2:c.2152C>A NP_002891.1:p.Pro718Thr
NM_002900.3:c.2152C>A MANE Select NP_002891.1:p.Pro718Thr
Search 100 bp 5'
Search 100 bp 3'