Canonical Allele Identifier: CA62820340
Gene: SF3B1 HGNC NCBI
COSMIC:
COSM110698
MyVariant.info:
GRCh38 chr2:g.197402636T>A
GRCh37 chr2:g.198267360T>A
Revel Score:
ENST00000335508 (MANE Select) 0.723
gnomAD v2:
2:198267360 T / A
gnomAD v3:
2:197402636 T / A
gnomAD v4:
chr2-197402636-T-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402636T>A , CM000664.2:g.197402636T>A GRCh38
NC_000002.11:g.198267360T>A , CM000664.1:g.198267360T>A GRCh37
NC_000002.10:g.197975605T>A NCBI36
NG_032903.2:g.37412A>T , LRG_624:g.37412A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.1997A>T MANE Select ENSP00000335321.6:p.Lys666Met
ENST00000470268.2:n.3881A>T
ENST00000652026.1:c.*3064A>T ENSP00000498652.1:n.*3064A>T
ENST00000652738.1:c.*2256A>T ENSP00000499119.1:n.*2256A>T
ENST00000335508.10:c.1997A>T ENSP00000335321.5:p.Lys666Met
NM_012433.2:c.1997A>T NP_036565.2:p.Lys666Met
NM_012433.3:c.1997A>T , LRG_624t2:c.1997A>T NP_036565.2:p.Lys666Met
XM_011510867.1:c.1559A>T XP_011509169.1:p.Lys520Met
XM_011510868.1:c.1559A>T XP_011509170.1:p.Lys520Met
XR_241300.2:n.2089A>T
XR_001738680.2:n.2042A>T
NM_012433.4:c.1997A>T MANE Select NP_036565.2:p.Lys666Met
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