Canonical Allele Identifier: CA968897737

Gene: THBS1

Linked Data

• dbSNP Id: rs1890093423
• gnomAD v3: 15-39581158-C-T
• gnomAD v4: 15-39581158-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581158C>T , CM000677.2:g.39581158C>T	GRCh38
NC_000015.9:g.39873359C>T , CM000677.1:g.39873359C>T	GRCh37
NC_000015.8:g.37660651C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-100C>T MANE Select	ENSP00000260356.5:n.-100C>T
ENST00000260356.5:c.-100C>T	ENSP00000260356.5:n.-100C>T
ENST00000397591.2:c.-221C>T	ENSP00000380720.2:n.-221C>T
NM_003246.2:c.-100C>T	NP_003237.2:n.-100C>T
NM_003246.3:c.-100C>T	NP_003237.2:n.-100C>T
XM_011521970.1:c.-221C>T	XP_011520272.1:n.-221C>T
XM_011521971.1:c.-100C>T	XP_011520273.1:n.-100C>T
XR_931897.1:n.76C>T
XM_011521971.2:c.-100C>T	XP_011520273.1:n.-100C>T
NM_003246.4:c.-100C>T MANE Select	NP_003237.2:n.-100C>T