ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.952
ENST00000351522
0.952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903968G>A , CM000663.2:g.173903968G>A | GRCh38 |
| NC_000001.10:g.173873106G>A , CM000663.1:g.173873106G>A | GRCh37 |
| NC_000001.9:g.172139729G>A | NCBI36 |
| NG_012462.1:g.18411C>T , LRG_577:g.18411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1316C>T MANE Select | ENSP00000356671.3:p.Pro439Leu | |
| ENST00000367698.3:c.1316C>T | ENSP00000356671.3:p.Pro439Leu | |
| ENST00000617423.4:c.701C>T | ENSP00000478688.1:p.Pro234Leu | |
| NM_000488.3:c.1316C>T , LRG_577t1:c.1316C>T | NP_000479.1:p.Pro439Leu | |
| XM_005245198.2:c.1172C>T | XP_005245255.1:p.Pro391Leu | |
| NM_001365052.1:c.1172C>T | NP_001351981.1:p.Pro391Leu | |
| NM_000488.4:c.1316C>T MANE Select | NP_000479.1:p.Pro439Leu | |
| NM_001365052.2:c.1172C>T | NP_001351981.1:p.Pro391Leu | |
| NM_001386302.1:c.1439C>T | NP_001373231.1:p.Pro480Leu | |
| NM_001386303.1:c.1397C>T | NP_001373232.1:p.Pro466Leu | |
| NM_001386304.1:c.1295C>T | NP_001373233.1:p.Pro432Leu | |
| NM_001386305.1:c.1259C>T | NP_001373234.1:p.Pro420Leu | |
| NM_001386306.1:c.1100C>T | NP_001373235.1:p.Pro367Leu |