Canonical Allele Identifier: CA968897784
Gene: THBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1890095116
gnomAD v3: 15-39581213-G-A
gnomAD v4: 15-39581213-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581213G>A , CM000677.2:g.39581213G>A GRCh38
NC_000015.9:g.39873414G>A , CM000677.1:g.39873414G>A GRCh37
NC_000015.8:g.37660706G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-45G>A MANE Select ENSP00000260356.5:n.-45G>A
ENST00000260356.5:c.-45G>A ENSP00000260356.5:n.-45G>A
ENST00000397591.2:c.-166G>A ENSP00000380720.2:n.-166G>A
NM_003246.2:c.-45G>A NP_003237.2:n.-45G>A
NM_003246.3:c.-45G>A NP_003237.2:n.-45G>A
XM_011521970.1:c.-166G>A XP_011520272.1:n.-166G>A
XM_011521971.1:c.-45G>A XP_011520273.1:n.-45G>A
XR_931897.1:n.131G>A
XM_011521971.2:c.-45G>A XP_011520273.1:n.-45G>A
NM_003246.4:c.-45G>A MANE Select NP_003237.2:n.-45G>A
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