Canonical Allele Identifier: CA2171396567
Gene: THBS1 HGNC NCBI

Linked Data

dbSNP Id: rs1890097065

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39581266C>G , CM000677.2:g.39581266C>G GRCh38
NC_000015.9:g.39873467C>G , CM000677.1:g.39873467C>G GRCh37
NC_000015.8:g.37660759C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.-30+38C>G MANE Select ENSP00000260356.5:n.-30+38C>G
ENST00000260356.5:c.-30+38C>G ENSP00000260356.5:n.-30+38C>G
ENST00000397591.2:c.-151+38C>G ENSP00000380720.2:n.-151+38C>G
NM_003246.2:c.-30+38C>G NP_003237.2:n.-30+38C>G
NM_003246.3:c.-30+38C>G NP_003237.2:n.-30+38C>G
XM_011521970.1:c.-151+38C>G XP_011520272.1:n.-151+38C>G
XM_011521971.1:c.-30+38C>G XP_011520273.1:n.-30+38C>G
XR_931897.1:n.146+38C>G
XM_011521971.2:c.-30+38C>G XP_011520273.1:n.-30+38C>G
NM_003246.4:c.-30+38C>G MANE Select NP_003237.2:n.-30+38C>G