Canonical Allele Identifier: CA6991914
Gene: THSD1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.52378171C>T
GRCh37 chr13:g.52952306C>T
Revel Score:
ENST00000349258 0.118
ENST00000544466 0.118
ENST00000258613 (MANE Select) 0.118
gnomAD v2:
13:52952306 C / T
gnomAD v3:
13:52378171 C / T
gnomAD v4:
chr13-52378171-C-T
Joint Max Group AF 0.00079618 (NFE)
Genomes Max Group AF 0.00103492 (NFE)
Exomes Max Group AF 0.00077032 (NFE)
ClinVar RCV:
RCV003393327
ClinVar Variation:
2643828
dbSNP:
141140186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52378171C>T , CM000675.2:g.52378171C>T GRCh38
NC_000013.10:g.52952306C>T , CM000675.1:g.52952306C>T GRCh37
NC_000013.9:g.51850307C>T NCBI36
NG_047168.1:g.33324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.1799G>A MANE Select ENSP00000258613.4:p.Gly600Glu
ENST00000648254.1:c.1640G>A ENSP00000497520.1:p.Gly547Glu
ENST00000258613.4:c.1799G>A ENSP00000258613.4:p.Gly600Glu
ENST00000349258.8:c.1640G>A ENSP00000340650.4:p.Gly547Glu
NM_018676.3:c.1799G>A NP_061146.1:p.Gly600Glu
NM_199263.2:c.1640G>A NP_954872.1:p.Gly547Glu
NM_018676.4:c.1799G>A MANE Select NP_061146.1:p.Gly600Glu
NM_199263.3:c.1640G>A NP_954872.1:p.Gly547Glu
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