Canonical Allele Identifier: CA483711454
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs2138025653
gnomAD v4: 13-48303632-T-C
MyVariant Identifiers: chr13:g.48877768T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303632T>C , CM000675.2:g.48303632T>C GRCh38
NC_000013.10:g.48877768T>C , CM000675.1:g.48877768T>C GRCh37
NC_000013.9:g.47775769T>C NCBI36
NG_009009.1:g.4886T>C , LRG_517:g.4886T>C

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.30A>G
NR_046414.2:n.71A>G
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