Canonical Allele Identifier: CA2042597
Gene: SF3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376004
ClinVar RCV Id: RCV000420863 RCV001531943 RCV002291501 RCV003401412
dbSNP Id: rs559063155
ExAC: 2:198266834 T / C
gnomAD v2: 2-198266834-T-C
gnomAD v3: 2-197402110-T-C
gnomAD v4: 2-197402110-T-C
COSMIC: COSM84677
MyVariant Identifiers: chr2:g.198266834T>C (hg19) chr2:g.197402110T>C (hg38)
PubMed: PMID:23395771
CIViC: CA2042597
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402110T>C , CM000664.2:g.197402110T>C GRCh38
NC_000002.11:g.198266834T>C , CM000664.1:g.198266834T>C GRCh37
NC_000002.10:g.197975079T>C NCBI36
NG_032903.2:g.37938A>G , LRG_624:g.37938A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000335508.11:c.2098A>G MANE Select ENSP00000335321.6:p.Lys700Glu
ENST00000470268.2:n.3982A>G
ENST00000652026.1:c.*3165A>G ENSP00000498652.1:n.*3165A>G
ENST00000652738.1:c.*2357A>G ENSP00000499119.1:n.*2357A>G
ENST00000335508.10:c.2098A>G ENSP00000335321.5:p.Lys700Glu
ENST00000462613.1:n.53A>G
NM_012433.2:c.2098A>G NP_036565.2:p.Lys700Glu
NM_012433.3:c.2098A>G , LRG_624t2:c.2098A>G NP_036565.2:p.Lys700Glu
XM_011510867.1:c.1660A>G XP_011509169.1:p.Lys554Glu
XM_011510868.1:c.1660A>G XP_011509170.1:p.Lys554Glu
XR_241300.2:n.2190A>G
XR_001738680.2:n.2143A>G
NM_012433.4:c.2098A>G MANE Select NP_036565.2:p.Lys700Glu
Search 100 bp 5'
Search 100 bp 3'