Canonical Allele Identifier: CA039677
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312286
ClinVar RCV Id: RCV000333631 RCV000615711
dbSNP Id: rs115108608
ExAC: 13:48939015 C / A
gnomAD v2: 13-48939015-C-A
gnomAD v3: 13-48364879-C-A
gnomAD v4: 13-48364879-C-A
MyVariant Identifiers: chr13:g.48939015C>A (hg19) chr13:g.48364879C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48364879C>A , CM000675.2:g.48364879C>A GRCh38
NC_000013.10:g.48939015C>A , CM000675.1:g.48939015C>A GRCh37
NC_000013.9:g.47837016C>A NCBI36
NG_009009.1:g.66133C>A , LRG_517:g.66133C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.862-15C>A MANE Select ENSP00000267163.4:n.862-15C>A
ENST00000650461.1:c.862-15C>A ENSP00000497193.1:n.862-15C>A
ENST00000267163.4:c.862-15C>A ENSP00000267163.4:n.862-15C>A
NM_000321.2:c.862-15C>A , LRG_517t1:c.862-15C>A NP_000312.2:n.862-15C>A
XM_011535171.1:c.601-15C>A XP_011533473.1:n.601-15C>A
XM_011535171.2:c.601-15C>A XP_011533473.1:n.601-15C>A
NM_000321.3:c.862-15C>A MANE Select NP_000312.2:n.862-15C>A
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