Canonical Allele Identifier: CA15210731
Gene: THSD7B HGNC NCBI
dbSNP:
1469622
gnomAD v2:
2:137875875 T / C
gnomAD v3:
2:137118305 T / C
gnomAD v4:
chr2-137118305-T-C
Joint Max Group AF 0.59199801 (NFE)
Genomes Max Group AF 0.59199801 (NFE)
MyVariant.info:
GRCh38 chr2:g.137118305T>C
GRCh37 chr2:g.137875875T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137118305T>C , CM000664.2:g.137118305T>C GRCh38
NC_000002.11:g.137875875T>C , CM000664.1:g.137875875T>C GRCh37
NC_000002.10:g.137592345T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.1369+3012T>C MANE Select ENSP00000387145.1:n.1369+3012T>C
ENST00000272643.7:c.1369+3012T>C ENSP00000272643.4:n.1369+3012T>C
ENST00000409968.5:c.1369+3012T>C ENSP00000387145.1:n.1369+3012T>C
ENST00000413152.3:c.1276+3012T>C ENSP00000413841.3:n.1276+3012T>C
NM_001080427.1:c.1276+3012T>C NP_001073896.1:n.1276+3012T>C
NM_001316349.1:c.1369+3012T>C NP_001303278.1:n.1369+3012T>C
NM_001316349.2:c.1369+3012T>C MANE Select NP_001303278.1:n.1369+3012T>C
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