Canonical Allele Identifier: CA6992219
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs746856935
ExAC: 13:52972046 G / C
gnomAD v2: 13-52972046-G-C
gnomAD v3: 13-52397911-G-C
gnomAD v4: 13-52397911-G-C
MyVariant Identifiers: chr13:g.52972046G>C (hg19) chr13:g.52397911G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397911G>C , CM000675.2:g.52397911G>C GRCh38
NC_000013.10:g.52972046G>C , CM000675.1:g.52972046G>C GRCh37
NC_000013.9:g.51870047G>C NCBI36
NG_047168.1:g.13584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.342C>G MANE Select ENSP00000258613.4:p.Phe114Leu
ENST00000648254.1:c.342C>G ENSP00000497520.1:p.Phe114Leu
ENST00000258613.4:c.342C>G ENSP00000258613.4:p.Phe114Leu
ENST00000349258.8:c.342C>G ENSP00000340650.4:p.Phe114Leu
NM_018676.3:c.342C>G NP_061146.1:p.Phe114Leu
NM_199263.2:c.342C>G NP_954872.1:p.Phe114Leu
NM_018676.4:c.342C>G MANE Select NP_061146.1:p.Phe114Leu
NM_199263.3:c.342C>G NP_954872.1:p.Phe114Leu
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