ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.850
ENST00000351522
0.850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904044C>T , CM000663.2:g.173904044C>T | GRCh38 |
| NC_000001.10:g.173873182C>T , CM000663.1:g.173873182C>T | GRCh37 |
| NC_000001.9:g.172139805C>T | NCBI36 |
| NG_012462.1:g.18335G>A , LRG_577:g.18335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1240G>A MANE Select | ENSP00000356671.3:p.Ala414Thr | |
| ENST00000367698.3:c.1240G>A | ENSP00000356671.3:p.Ala414Thr | |
| ENST00000617423.4:c.625G>A | ENSP00000478688.1:p.Ala209Thr | |
| NM_000488.3:c.1240G>A , LRG_577t1:c.1240G>A | NP_000479.1:p.Ala414Thr | |
| XM_005245198.2:c.1096G>A | XP_005245255.1:p.Ala366Thr | |
| NM_001365052.1:c.1096G>A | NP_001351981.1:p.Ala366Thr | |
| NM_000488.4:c.1240G>A MANE Select | NP_000479.1:p.Ala414Thr | |
| NM_001365052.2:c.1096G>A | NP_001351981.1:p.Ala366Thr | |
| NM_001386302.1:c.1363G>A | NP_001373231.1:p.Ala455Thr | |
| NM_001386303.1:c.1321G>A | NP_001373232.1:p.Ala441Thr | |
| NM_001386304.1:c.1219G>A | NP_001373233.1:p.Ala407Thr | |
| NM_001386305.1:c.1183G>A | NP_001373234.1:p.Ala395Thr | |
| NM_001386306.1:c.1024G>A | NP_001373235.1:p.Ala342Thr |