Canonical Allele Identifier: CA2607098
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs775191474
ExAC: 3:129247826 C / G
gnomAD v4: 3-129528983-C-G
MyVariant Identifiers: chr3:g.129247826C>G (hg19) chr3:g.129528983C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528983C>G , CM000665.2:g.129528983C>G GRCh38
NC_000003.11:g.129247826C>G , CM000665.1:g.129247826C>G GRCh37
NC_000003.10:g.130730516C>G NCBI36
NG_009115.1:g.5345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.250C>G MANE Select ENSP00000296271.3:p.Leu84Val
ENST00000296271.3:c.250C>G ENSP00000296271.3:p.Leu84Val
NM_000539.3:c.250C>G MANE Select NP_000530.1:p.Leu84Val
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