Canonical Allele Identifier: CA249308179
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527918
ClinVar RCV Id: RCV000632947 RCV002420696
dbSNP Id: rs897199998
gnomAD v4: 13-48459762-A-G
MyVariant Identifiers: chr13:g.49033898A>G (hg19) chr13:g.48459762A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459762A>G , CM000675.2:g.48459762A>G GRCh38
NC_000013.10:g.49033898A>G , CM000675.1:g.49033898A>G GRCh37
NC_000013.9:g.47931899A>G NCBI36
NG_009009.1:g.161016A>G , LRG_517:g.161016A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2035A>G MANE Select ENSP00000267163.4:p.Ile679Val
ENST00000643064.1:c.194+78319A>G
ENST00000650461.1:c.2035A>G ENSP00000497193.1:p.Ile679Val
ENST00000267163.4:c.2035A>G ENSP00000267163.4:p.Ile679Val
NM_000321.2:c.2035A>G , LRG_517t1:c.2035A>G NP_000312.2:p.Ile679Val
XM_011535171.1:c.1774A>G XP_011533473.1:p.Ile592Val
XM_011535171.2:c.1774A>G XP_011533473.1:p.Ile592Val
NM_000321.3:c.2035A>G MANE Select NP_000312.2:p.Ile679Val
Search 100 bp 5'
Search 100 bp 3'