ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.820
ENST00000351522
0.820
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903971C>A , CM000663.2:g.173903971C>A | GRCh38 |
| NC_000001.10:g.173873109C>A , CM000663.1:g.173873109C>A | GRCh37 |
| NC_000001.9:g.172139732C>A | NCBI36 |
| NG_012462.1:g.18408G>T , LRG_577:g.18408G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1313G>T MANE Select | ENSP00000356671.3:p.Arg438Met | |
| ENST00000367698.3:c.1313G>T | ENSP00000356671.3:p.Arg438Met | |
| ENST00000617423.4:c.698G>T | ENSP00000478688.1:p.Arg233Met | |
| NM_000488.3:c.1313G>T , LRG_577t1:c.1313G>T | NP_000479.1:p.Arg438Met | |
| XM_005245198.2:c.1169G>T | XP_005245255.1:p.Arg390Met | |
| NM_001365052.1:c.1169G>T | NP_001351981.1:p.Arg390Met | |
| NM_000488.4:c.1313G>T MANE Select | NP_000479.1:p.Arg438Met | |
| NM_001365052.2:c.1169G>T | NP_001351981.1:p.Arg390Met | |
| NM_001386302.1:c.1436G>T | NP_001373231.1:p.Arg479Met | |
| NM_001386303.1:c.1394G>T | NP_001373232.1:p.Arg465Met | |
| NM_001386304.1:c.1292G>T | NP_001373233.1:p.Arg431Met | |
| NM_001386305.1:c.1256G>T | NP_001373234.1:p.Arg419Met | |
| NM_001386306.1:c.1097G>T | NP_001373235.1:p.Arg366Met |