Canonical Allele Identifier: CA6992167
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs144420262
ExAC: 13:52971761 C / T
gnomAD v2: 13-52971761-C-T
gnomAD v3: 13-52397626-C-T
gnomAD v4: 13-52397626-C-T
MyVariant Identifiers: chr13:g.52971761C>T (hg19) chr13:g.52397626C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397626C>T , CM000675.2:g.52397626C>T GRCh38
NC_000013.10:g.52971761C>T , CM000675.1:g.52971761C>T GRCh37
NC_000013.9:g.51869762C>T NCBI36
NG_047168.1:g.13869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.627G>A MANE Select ENSP00000258613.4:p.Leu209=
ENST00000648254.1:c.627G>A ENSP00000497520.1:p.Leu209=
ENST00000258613.4:c.627G>A ENSP00000258613.4:p.Leu209=
ENST00000349258.8:c.627G>A ENSP00000340650.4:p.Leu209=
NM_018676.3:c.627G>A NP_061146.1:p.Leu209=
NM_199263.2:c.627G>A NP_954872.1:p.Leu209=
NM_018676.4:c.627G>A MANE Select NP_061146.1:p.Leu209=
NM_199263.3:c.627G>A NP_954872.1:p.Leu209=
Search 100 bp 5'
Search 100 bp 3'