Canonical Allele Identifier: CA6992189
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs373210760
ExAC: 13:52971895 T / C
gnomAD v2: 13-52971895-T-C
gnomAD v3: 13-52397760-T-C
gnomAD v4: 13-52397760-T-C
MyVariant Identifiers: chr13:g.52971895T>C (hg19) chr13:g.52397760T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397760T>C , CM000675.2:g.52397760T>C GRCh38
NC_000013.10:g.52971895T>C , CM000675.1:g.52971895T>C GRCh37
NC_000013.9:g.51869896T>C NCBI36
NG_047168.1:g.13735A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.493A>G MANE Select ENSP00000258613.4:p.Ile165Val
ENST00000648254.1:c.493A>G ENSP00000497520.1:p.Ile165Val
ENST00000258613.4:c.493A>G ENSP00000258613.4:p.Ile165Val
ENST00000349258.8:c.493A>G ENSP00000340650.4:p.Ile165Val
NM_018676.3:c.493A>G NP_061146.1:p.Ile165Val
NM_199263.2:c.493A>G NP_954872.1:p.Ile165Val
NM_018676.4:c.493A>G MANE Select NP_061146.1:p.Ile165Val
NM_199263.3:c.493A>G NP_954872.1:p.Ile165Val
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