Canonical Allele Identifier: CA968897750

Gene: THBS1

Linked Data

• dbSNP Id: rs1890094354
• gnomAD v3: 15-39581190-T-C
• gnomAD v4: 15-39581190-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581190T>C , CM000677.2:g.39581190T>C	GRCh38
NC_000015.9:g.39873391T>C , CM000677.1:g.39873391T>C	GRCh37
NC_000015.8:g.37660683T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-68T>C MANE Select	ENSP00000260356.5:n.-68T>C
ENST00000260356.5:c.-68T>C	ENSP00000260356.5:n.-68T>C
ENST00000397591.2:c.-189T>C	ENSP00000380720.2:n.-189T>C
NM_003246.2:c.-68T>C	NP_003237.2:n.-68T>C
NM_003246.3:c.-68T>C	NP_003237.2:n.-68T>C
XM_011521970.1:c.-189T>C	XP_011520272.1:n.-189T>C
XM_011521971.1:c.-68T>C	XP_011520273.1:n.-68T>C
XR_931897.1:n.108T>C
XM_011521971.2:c.-68T>C	XP_011520273.1:n.-68T>C
NM_003246.4:c.-68T>C MANE Select	NP_003237.2:n.-68T>C