Canonical Allele Identifier: CA376672191
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1294879816
gnomAD v2: 10-48388725-G-T
gnomAD v3: 10-47350637-C-A
gnomAD v4: 10-47350637-C-A
MyVariant Identifiers: chr10:g.48388725G>T (hg19) chr10:g.47350637C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350637C>A , CM000672.2:g.47350637C>A GRCh38
NC_000010.10:g.48388725G>T , CM000672.1:g.48388725G>T GRCh37
NC_000010.9:g.48008731G>T NCBI36
NG_029718.1:g.7267C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2153C>A MANE Select ENSP00000463151.1:p.Pro718His
ENST00000584701.1:c.2153C>A ENSP00000463151.1:p.Pro718His
NM_002900.2:c.2153C>A NP_002891.1:p.Pro718His
NM_002900.3:c.2153C>A MANE Select NP_002891.1:p.Pro718His
Search 100 bp 5'
Search 100 bp 3'