Canonical Allele Identifier: CA039420

Gene: RB1

Linked Data

• ClinVar Variation Id: 458180
• ClinVar RCV Id: RCV000533722 ; RCV001026275
• dbSNP Id: rs147754935
• ExAC: 13:48936963 T / C
• gnomAD v2: 13-48936963-T-C
• gnomAD v3: 13-48362827-T-C
• gnomAD v4: 13-48362827-T-C
• MyVariant Identifiers: chr13:g.48936963T>C (hg19) ; chr13:g.48362827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48362827T>C , CM000675.2:g.48362827T>C	GRCh38
NC_000013.10:g.48936963T>C , CM000675.1:g.48936963T>C	GRCh37
NC_000013.9:g.47834964T>C	NCBI36
NG_009009.1:g.64081T>C , LRG_517:g.64081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.731T>C MANE Select	ENSP00000267163.4:p.Ile244Thr
ENST00000650461.1:c.731T>C	ENSP00000497193.1:p.Ile244Thr
ENST00000267163.4:c.731T>C	ENSP00000267163.4:p.Ile244Thr
ENST00000467505.5:c.*99T>C	ENSP00000434702.1:n.*99T>C
NM_000321.2:c.731T>C , LRG_517t1:c.731T>C	NP_000312.2:p.Ile244Thr
XM_011535171.1:c.470T>C	XP_011533473.1:p.Ile157Thr
XM_011535171.2:c.470T>C	XP_011533473.1:p.Ile157Thr
NM_000321.3:c.731T>C MANE Select	NP_000312.2:p.Ile244Thr