Canonical Allele Identifier: CA249308185
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 697602
ClinVar RCV Id: RCV000864548 RCV001014234
dbSNP Id: rs1048847950
gnomAD v3: 13-48459776-T-C
gnomAD v4: 13-48459776-T-C
MyVariant Identifiers: chr13:g.49033912T>C (hg19) chr13:g.48459776T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459776T>C , CM000675.2:g.48459776T>C GRCh38
NC_000013.10:g.49033912T>C , CM000675.1:g.49033912T>C GRCh37
NC_000013.9:g.47931913T>C NCBI36
NG_009009.1:g.161030T>C , LRG_517:g.161030T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2049T>C MANE Select ENSP00000267163.4:p.Leu683=
ENST00000643064.1:c.194+78333T>C
ENST00000650461.1:c.2049T>C ENSP00000497193.1:p.Leu683=
ENST00000267163.4:c.2049T>C ENSP00000267163.4:p.Leu683=
NM_000321.2:c.2049T>C , LRG_517t1:c.2049T>C NP_000312.2:p.Leu683=
XM_011535171.1:c.1788T>C XP_011533473.1:p.Leu596=
XM_011535171.2:c.1788T>C XP_011533473.1:p.Leu596=
NM_000321.3:c.2049T>C MANE Select NP_000312.2:p.Leu683=
Search 100 bp 5'
Search 100 bp 3'