Canonical Allele Identifier: CA249287944
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657557
ClinVar RCV Id: RCV000814186 RCV002433970 RCV003461220
dbSNP Id: rs757818801
gnomAD v2: 13-49050936-A-C
gnomAD v3: 13-48476800-A-C
gnomAD v4: 13-48476800-A-C
MyVariant Identifiers: chr13:g.49050936A>C (hg19) chr13:g.48476800A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476800A>C , CM000675.2:g.48476800A>C GRCh38
NC_000013.10:g.49050936A>C , CM000675.1:g.49050936A>C GRCh37
NC_000013.9:g.47948937A>C NCBI36
NG_009009.1:g.178054A>C , LRG_517:g.178054A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2620A>C MANE Select ENSP00000267163.4:p.Lys874Gln
ENST00000643064.1:c.194+95357A>C
ENST00000650461.1:c.2620A>C ENSP00000497193.1:p.Lys874Gln
ENST00000267163.4:c.2620A>C ENSP00000267163.4:p.Lys874Gln
ENST00000484879.1:n.354A>C
ENST00000531171.5:n.223A>C
NM_000321.2:c.2620A>C , LRG_517t1:c.2620A>C NP_000312.2:p.Lys874Gln
XM_011535171.1:c.2359A>C XP_011533473.1:p.Lys787Gln
XM_011535171.2:c.2359A>C XP_011533473.1:p.Lys787Gln
NM_000321.3:c.2620A>C MANE Select NP_000312.2:p.Lys874Gln
Search 100 bp 5'
Search 100 bp 3'