Canonical Allele Identifier: CA113829
Gene: OPN1SW HGNC NCBI

Linked Data

ClinVar Variation Id: 62
ClinVar RCV Id: RCV000000079 RCV001044282
dbSNP Id: rs104894031
ExAC: 7:128415610 C / T
gnomAD v2: 7-128415610-C-T
gnomAD v3: 7-128775556-C-T
gnomAD v4: 7-128775556-C-T
MyVariant Identifiers: chr7:g.128415610C>T (hg19) chr7:g.128775556C>T (hg38)
PubMed: PMID:1531728
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775556C>T , CM000669.2:g.128775556C>T GRCh38
NC_000007.13:g.128415610C>T , CM000669.1:g.128415610C>T GRCh37
NC_000007.12:g.128202846C>T NCBI36
NG_009094.1:g.5235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000249389.3:c.226G>A MANE Select ENSP00000249389.3:p.Gly76Arg
ENST00000249389.2:c.235G>A ENSP00000249389.2:p.Gly79Arg
NM_001708.2:c.235G>A NP_001699.1:p.Gly79Arg
NM_001385125.1:c.226G>A MANE Select NP_001372054.1:p.Gly76Arg
Search 100 bp 5'
Search 100 bp 3'