Canonical Allele Identifier: CA2042638
Gene: SF3B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376535
ClinVar RCV Id: RCV000420143 RCV000422746 RCV000431257 RCV000440401
dbSNP Id: rs775623976
ExAC: 2:198267484 G / A
gnomAD v2: 2-198267484-G-A
gnomAD v3: 2-197402760-G-A
gnomAD v4: 2-197402760-G-A
COSMIC: COSM110696
MyVariant Identifiers: chr2:g.198267484G>A (hg19) chr2:g.197402760G>A (hg38)
PubMed: PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402760G>A , CM000664.2:g.197402760G>A GRCh38
NC_000002.11:g.198267484G>A , CM000664.1:g.198267484G>A GRCh37
NC_000002.10:g.197975729G>A NCBI36
NG_032903.2:g.37288C>T , LRG_624:g.37288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.1873C>T MANE Select ENSP00000335321.6:p.Arg625Cys
ENST00000470268.2:n.3757C>T
ENST00000652026.1:c.*2940C>T ENSP00000498652.1:n.*2940C>T
ENST00000652738.1:c.*2132C>T ENSP00000499119.1:n.*2132C>T
ENST00000335508.10:c.1873C>T ENSP00000335321.5:p.Arg625Cys
NM_012433.2:c.1873C>T NP_036565.2:p.Arg625Cys
NM_012433.3:c.1873C>T , LRG_624t2:c.1873C>T NP_036565.2:p.Arg625Cys
XM_011510867.1:c.1435C>T XP_011509169.1:p.Arg479Cys
XM_011510868.1:c.1435C>T XP_011509170.1:p.Arg479Cys
XR_241300.2:n.1965C>T
XR_001738680.2:n.1918C>T
NM_012433.4:c.1873C>T MANE Select NP_036565.2:p.Arg625Cys
Search 100 bp 5'
Search 100 bp 3'