Canonical Allele Identifier: CA2171402303

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39595647G= , CM000677.2:g.39595647G= GRCh38
NC_000015.9:g.39887848G= , CM000677.1:g.39887848G= GRCh37
NC_000015.8:g.37675140G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.*278G= (THBS1) MANE Select ENSP00000260356.5:n.*278G=
ENST00000560769.2:c.83-1414C= (FSIP1)
ENST00000642527.1:c.592-1414C= (FSIP1)
ENST00000260356.5:c.*278G= (THBS1) ENSP00000260356.5:n.*278G=
NM_003246.2:c.*278G= (THBS1) NP_003237.2:n.*278G=
NM_003246.3:c.*278G= (THBS1) NP_003237.2:n.*278G=
XM_011521970.1:c.*278G= (THBS1) XP_011520272.1:n.*278G=
XM_011521971.1:c.*278G= (THBS1) XP_011520273.1:n.*278G=
XM_011521971.2:c.*278G= (THBS1) XP_011520273.1:n.*278G=
NM_003246.4:c.*278G= (THBS1) MANE Select NP_003237.2:n.*278G=