Canonical Allele Identifier: CA7472510
Gene: THBS1 HGNC NCBI
FSIP1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.39595647G>A
GRCh37 chr15:g.39887848G>A
gnomAD v2:
15:39887848 G / A
gnomAD v3:
15:39595647 G / A
gnomAD v4:
chr15-39595647-G-A
Joint Max Group AF 0.3278745 (EAS)
Genomes Max Group AF 0.3004923 (EAS)
Exomes Max Group AF 0.33178004 (EAS)
dbSNP:
3743125
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39595647G>A , CM000677.2:g.39595647G>A GRCh38
NC_000015.9:g.39887848G>A , CM000677.1:g.39887848G>A GRCh37
NC_000015.8:g.37675140G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.*278G>A (THBS1) MANE Select ENSP00000260356.5:n.*278G>A
ENST00000560769.2:c.83-1414C>T (FSIP1)
ENST00000642527.1:c.592-1414C>T (FSIP1)
ENST00000260356.5:c.*278G>A (THBS1) ENSP00000260356.5:n.*278G>A
NM_003246.2:c.*278G>A (THBS1) NP_003237.2:n.*278G>A
NM_003246.3:c.*278G>A (THBS1) NP_003237.2:n.*278G>A
XM_011521970.1:c.*278G>A (THBS1) XP_011520272.1:n.*278G>A
XM_011521971.1:c.*278G>A (THBS1) XP_011520273.1:n.*278G>A
XM_011521971.2:c.*278G>A (THBS1) XP_011520273.1:n.*278G>A
NM_003246.4:c.*278G>A (THBS1) MANE Select NP_003237.2:n.*278G>A
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