Canonical Allele Identifier: CA032673

Gene: RB1

Linked Data

• ClinVar Variation Id: 252476
• ClinVar RCV Id: RCV000238879 ; RCV001013283
• dbSNP Id: rs376886420
• ExAC: 13:49027250 A / G
• gnomAD v2: 13-49027250-A-G
• gnomAD v3: 13-48453114-A-G
• gnomAD v4: 13-48453114-A-G
• MyVariant Identifiers: chr13:g.49027250A>G (hg19) ; chr13:g.48453114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48453114A>G , CM000675.2:g.48453114A>G	GRCh38
NC_000013.10:g.49027250A>G , CM000675.1:g.49027250A>G	GRCh37
NC_000013.9:g.47925251A>G	NCBI36
NG_009009.1:g.154368A>G , LRG_517:g.154368A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1814+3A>G MANE Select	ENSP00000267163.4:n.1814+3A>G
ENST00000643064.1:c.194+71671A>G
ENST00000650461.1:c.1814+3A>G	ENSP00000497193.1:n.1814+3A>G
ENST00000267163.4:c.1814+3A>G	ENSP00000267163.4:n.1814+3A>G
ENST00000480491.1:n.513+3A>G
NM_000321.2:c.1814+3A>G , LRG_517t1:c.1814+3A>G	NP_000312.2:n.1814+3A>G
XM_011535171.1:c.1553+3A>G	XP_011533473.1:n.1553+3A>G
XM_011535171.2:c.1553+3A>G	XP_011533473.1:n.1553+3A>G
NM_000321.3:c.1814+3A>G MANE Select	NP_000312.2:n.1814+3A>G