Canonical Allele Identifier: CA033984

Gene: RB1

Linked Data

• ClinVar Variation Id: 312293
• ClinVar RCV Id: RCV000306444 ; RCV001014403 ; RCV002305481 ; RCV003463782
• dbSNP Id: rs3092903
• ExAC: 13:49033954 C / G
• gnomAD v2: 13-49033954-C-G
• gnomAD v3: 13-48459818-C-G
• gnomAD v4: 13-48459818-C-G
• MyVariant Identifiers: chr13:g.49033954C>G (hg19) ; chr13:g.48459818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459818C>G , CM000675.2:g.48459818C>G	GRCh38
NC_000013.10:g.49033954C>G , CM000675.1:g.49033954C>G	GRCh37
NC_000013.9:g.47931955C>G	NCBI36
NG_009009.1:g.161072C>G , LRG_517:g.161072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2091C>G MANE Select	ENSP00000267163.4:p.Asp697Glu
ENST00000643064.1:c.194+78375C>G
ENST00000650461.1:c.2091C>G	ENSP00000497193.1:p.Asp697Glu
ENST00000267163.4:c.2091C>G	ENSP00000267163.4:p.Asp697Glu
NM_000321.2:c.2091C>G , LRG_517t1:c.2091C>G	NP_000312.2:p.Asp697Glu
XM_011535171.1:c.1830C>G	XP_011533473.1:p.Asp610Glu
XM_011535171.2:c.1830C>G	XP_011533473.1:p.Asp610Glu
NM_000321.3:c.2091C>G MANE Select	NP_000312.2:p.Asp697Glu