Canonical Allele Identifier: CA033234

Gene: RB1

Linked Data

• ClinVar Variation Id: 237666
• ClinVar RCV Id: RCV000234127 ; RCV000352938 ; RCV001722212 ; RCV002256132
• dbSNP Id: rs201697122
• ExAC: 13:49033812 T / C
• gnomAD v2: 13-49033812-T-C
• gnomAD v3: 13-48459676-T-C
• gnomAD v4: 13-48459676-T-C
• MyVariant Identifiers: chr13:g.49033812T>C (hg19) ; chr13:g.48459676T>C (hg38)
• PubMed: PMID:15605413 ; PMID:18000883

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459676T>C , CM000675.2:g.48459676T>C	GRCh38
NC_000013.10:g.49033812T>C , CM000675.1:g.49033812T>C	GRCh37
NC_000013.9:g.47931813T>C	NCBI36
NG_009009.1:g.160930T>C , LRG_517:g.160930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1961-12T>C MANE Select	ENSP00000267163.4:n.1961-12T>C
ENST00000643064.1:c.194+78233T>C
ENST00000650461.1:c.1961-12T>C	ENSP00000497193.1:n.1961-12T>C
ENST00000267163.4:c.1961-12T>C	ENSP00000267163.4:n.1961-12T>C
NM_000321.2:c.1961-12T>C , LRG_517t1:c.1961-12T>C	NP_000312.2:n.1961-12T>C
XM_011535171.1:c.1700-12T>C	XP_011533473.1:n.1700-12T>C
XM_011535171.2:c.1700-12T>C	XP_011533473.1:n.1700-12T>C
NM_000321.3:c.1961-12T>C MANE Select	NP_000312.2:n.1961-12T>C