Canonical Allele Identifier: CA5487361
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs782725069
ExAC: 10:48388780 G / C
gnomAD v2: 10-48388780-G-C
gnomAD v4: 10-47350582-C-G
MyVariant Identifiers: chr10:g.48388780G>C (hg19) chr10:g.47350582C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350582C>G , CM000672.2:g.47350582C>G GRCh38
NC_000010.10:g.48388780G>C , CM000672.1:g.48388780G>C GRCh37
NC_000010.9:g.48008786G>C NCBI36
NG_029718.1:g.7212C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2098C>G MANE Select ENSP00000463151.1:p.Leu700Val
ENST00000584701.1:c.2098C>G ENSP00000463151.1:p.Leu700Val
NM_002900.2:c.2098C>G NP_002891.1:p.Leu700Val
NM_002900.3:c.2098C>G MANE Select NP_002891.1:p.Leu700Val
Search 100 bp 5'
Search 100 bp 3'