Canonical Allele Identifier: CA6991782
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs780150341
ExAC: 13:52951782 A / G
gnomAD v2: 13-52951782-A-G
gnomAD v3: 13-52377647-A-G
gnomAD v4: 13-52377647-A-G
MyVariant Identifiers: chr13:g.52951782A>G (hg19) chr13:g.52377647A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52377647A>G , CM000675.2:g.52377647A>G GRCh38
NC_000013.10:g.52951782A>G , CM000675.1:g.52951782A>G GRCh37
NC_000013.9:g.51849783A>G NCBI36
NG_047168.1:g.33848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258613.5:c.2323T>C MANE Select ENSP00000258613.4:p.Ser775Pro
ENST00000648254.1:c.2164T>C ENSP00000497520.1:p.Ser722Pro
ENST00000258613.4:c.2323T>C ENSP00000258613.4:p.Ser775Pro
ENST00000349258.8:c.2164T>C ENSP00000340650.4:p.Ser722Pro
NM_018676.3:c.2323T>C NP_061146.1:p.Ser775Pro
NM_199263.2:c.2164T>C NP_954872.1:p.Ser722Pro
NM_018676.4:c.2323T>C MANE Select NP_061146.1:p.Ser775Pro
NM_199263.3:c.2164T>C NP_954872.1:p.Ser722Pro
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