Canonical Allele Identifier: CA268716668

Gene: THBS1

Linked Data

• dbSNP Id: rs944732048
• gnomAD v2: 15-39873503-C-T
• gnomAD v3: 15-39581302-C-T
• gnomAD v4: 15-39581302-C-T
• MyVariant Identifiers: chr15:g.39873503C>T (hg19) ; chr15:g.39581302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581302C>T , CM000677.2:g.39581302C>T	GRCh38
NC_000015.9:g.39873503C>T , CM000677.1:g.39873503C>T	GRCh37
NC_000015.8:g.37660795C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-30+74C>T MANE Select	ENSP00000260356.5:n.-30+74C>T
ENST00000260356.5:c.-30+74C>T	ENSP00000260356.5:n.-30+74C>T
ENST00000397591.2:c.-151+74C>T	ENSP00000380720.2:n.-151+74C>T
NM_003246.2:c.-30+74C>T	NP_003237.2:n.-30+74C>T
NM_003246.3:c.-30+74C>T	NP_003237.2:n.-30+74C>T
XM_011521970.1:c.-151+74C>T	XP_011520272.1:n.-151+74C>T
XM_011521971.1:c.-30+74C>T	XP_011520273.1:n.-30+74C>T
XR_931897.1:n.146+74C>T
XM_011521971.2:c.-30+74C>T	XP_011520273.1:n.-30+74C>T
NM_003246.4:c.-30+74C>T MANE Select	NP_003237.2:n.-30+74C>T