Canonical Allele Identifier: CA955793070
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949427840
gnomAD v3: 13-48464948-G-C
gnomAD v4: 13-48464948-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464948G>C , CM000675.2:g.48464948G>C GRCh38
NC_000013.10:g.49039084G>C , CM000675.1:g.49039084G>C GRCh37
NC_000013.9:g.47937085G>C NCBI36
NG_009009.1:g.166202G>C , LRG_517:g.166202G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-50G>C MANE Select ENSP00000267163.4:n.2212-50G>C
ENST00000643064.1:c.194+83505G>C
ENST00000650461.1:c.2212-50G>C ENSP00000497193.1:n.2212-50G>C
ENST00000267163.4:c.2212-50G>C ENSP00000267163.4:n.2212-50G>C
NM_000321.2:c.2212-50G>C , LRG_517t1:c.2212-50G>C NP_000312.2:n.2212-50G>C
XM_011535171.1:c.1951-50G>C XP_011533473.1:n.1951-50G>C
XM_011535171.2:c.1951-50G>C XP_011533473.1:n.1951-50G>C
NM_000321.3:c.2212-50G>C MANE Select NP_000312.2:n.2212-50G>C
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