Canonical Allele Identifier: CA11340545
Gene: THSD7B HGNC NCBI
dbSNP:
892877
gnomAD v2:
2:137873347 A / G
gnomAD v3:
2:137115777 A / G
gnomAD v4:
chr2-137115777-A-G
Joint Max Group AF 0.92904595 (AFR)
Genomes Max Group AF 0.92904595 (AFR)
MyVariant.info:
GRCh38 chr2:g.137115777A>G
GRCh37 chr2:g.137873347A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137115777A>G , CM000664.2:g.137115777A>G GRCh38
NC_000002.11:g.137873347A>G , CM000664.1:g.137873347A>G GRCh37
NC_000002.10:g.137589817A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.1369+484A>G MANE Select ENSP00000387145.1:n.1369+484A>G
ENST00000272643.7:c.1369+484A>G ENSP00000272643.4:n.1369+484A>G
ENST00000409968.5:c.1369+484A>G ENSP00000387145.1:n.1369+484A>G
ENST00000413152.3:c.1276+484A>G ENSP00000413841.3:n.1276+484A>G
NM_001080427.1:c.1276+484A>G NP_001073896.1:n.1276+484A>G
NM_001316349.1:c.1369+484A>G NP_001303278.1:n.1369+484A>G
NM_001316349.2:c.1369+484A>G MANE Select NP_001303278.1:n.1369+484A>G
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