Canonical Allele Identifier: CA2622986176
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138359964
gnomAD v4: 13-48476910-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476910A>C , CM000675.2:g.48476910A>C GRCh38
NC_000013.10:g.49051046A>C , CM000675.1:g.49051046A>C GRCh37
NC_000013.9:g.47949047A>C NCBI36
NG_009009.1:g.178164A>C , LRG_517:g.178164A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2663+67A>C MANE Select ENSP00000267163.4:n.2663+67A>C
ENST00000643064.1:c.194+95467A>C
ENST00000650461.1:c.2663+67A>C ENSP00000497193.1:n.2663+67A>C
ENST00000267163.4:c.2663+67A>C ENSP00000267163.4:n.2663+67A>C
ENST00000484879.1:n.397+67A>C
ENST00000531171.5:n.266+67A>C
NM_000321.2:c.2663+67A>C , LRG_517t1:c.2663+67A>C NP_000312.2:n.2663+67A>C
XM_011535171.1:c.2402+67A>C XP_011533473.1:n.2402+67A>C
XM_011535171.2:c.2402+67A>C XP_011533473.1:n.2402+67A>C
NM_000321.3:c.2663+67A>C MANE Select NP_000312.2:n.2663+67A>C
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