Canonical Allele Identifier: CA2607352
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs368995053
ExAC: 3:129252497 T / C
gnomAD v2: 3-129252497-T-C
gnomAD v3: 3-129533654-T-C
gnomAD v4: 3-129533654-T-C
MyVariant Identifiers: chr3:g.129252497T>C (hg19) chr3:g.129533654T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533654T>C , CM000665.2:g.129533654T>C GRCh38
NC_000003.11:g.129252497T>C , CM000665.1:g.129252497T>C GRCh37
NC_000003.10:g.130735187T>C NCBI36
NG_009115.1:g.10016T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.983T>C MANE Select ENSP00000296271.3:p.Leu328Pro
ENST00000296271.3:c.983T>C ENSP00000296271.3:p.Leu328Pro
NM_000539.3:c.983T>C MANE Select NP_000530.1:p.Leu328Pro
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