Canonical Allele Identifier: CA13918216
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1222742
ClinVar RCV Id: RCV001598372
dbSNP Id: rs198580
gnomAD v2: 13-49033747-G-A
gnomAD v3: 13-48459611-G-A
gnomAD v4: 13-48459611-G-A
MyVariant Identifiers: chr13:g.49033747G>A (hg19) chr13:g.48459611G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459611G>A , CM000675.2:g.48459611G>A GRCh38
NC_000013.10:g.49033747G>A , CM000675.1:g.49033747G>A GRCh37
NC_000013.9:g.47931748G>A NCBI36
NG_009009.1:g.160865G>A , LRG_517:g.160865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-77G>A MANE Select ENSP00000267163.4:n.1961-77G>A
ENST00000643064.1:c.194+78168G>A
ENST00000650461.1:c.1961-77G>A ENSP00000497193.1:n.1961-77G>A
ENST00000267163.4:c.1961-77G>A ENSP00000267163.4:n.1961-77G>A
NM_000321.2:c.1961-77G>A , LRG_517t1:c.1961-77G>A NP_000312.2:n.1961-77G>A
XM_011535171.1:c.1700-77G>A XP_011533473.1:n.1700-77G>A
XM_011535171.2:c.1700-77G>A XP_011533473.1:n.1700-77G>A
NM_000321.3:c.1961-77G>A MANE Select NP_000312.2:n.1961-77G>A
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