Canonical Allele Identifier: CA376672029
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs112888313
gnomAD v2: 10-48388801-C-A
MyVariant Identifiers: chr10:g.48388801C>A (hg19) chr10:g.47350561G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350561G>T , CM000672.2:g.47350561G>T GRCh38
NC_000010.10:g.48388801C>A , CM000672.1:g.48388801C>A GRCh37
NC_000010.9:g.48008807C>A NCBI36
NG_029718.1:g.7191G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2077G>T MANE Select ENSP00000463151.1:p.Val693Leu
ENST00000584701.1:c.2077G>T ENSP00000463151.1:p.Val693Leu
NM_002900.2:c.2077G>T NP_002891.1:p.Val693Leu
NM_002900.3:c.2077G>T MANE Select NP_002891.1:p.Val693Leu
Search 100 bp 5'
Search 100 bp 3'