ClinGen Evidence Repository:
Classification
Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.837
ENST00000351522
0.837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904038C>G , CM000663.2:g.173904038C>G | GRCh38 |
| NC_000001.10:g.173873176C>G , CM000663.1:g.173873176C>G | GRCh37 |
| NC_000001.9:g.172139799C>G | NCBI36 |
| NG_012462.1:g.18341G>C , LRG_577:g.18341G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1246G>C MANE Select | ENSP00000356671.3:p.Ala416Pro | |
| ENST00000367698.3:c.1246G>C | ENSP00000356671.3:p.Ala416Pro | |
| ENST00000617423.4:c.631G>C | ENSP00000478688.1:p.Ala211Pro | |
| NM_000488.3:c.1246G>C , LRG_577t1:c.1246G>C | NP_000479.1:p.Ala416Pro | |
| XM_005245198.2:c.1102G>C | XP_005245255.1:p.Ala368Pro | |
| NM_001365052.1:c.1102G>C | NP_001351981.1:p.Ala368Pro | |
| NM_000488.4:c.1246G>C MANE Select | NP_000479.1:p.Ala416Pro | |
| NM_001365052.2:c.1102G>C | NP_001351981.1:p.Ala368Pro | |
| NM_001386302.1:c.1369G>C | NP_001373231.1:p.Ala457Pro | |
| NM_001386303.1:c.1327G>C | NP_001373232.1:p.Ala443Pro | |
| NM_001386304.1:c.1225G>C | NP_001373233.1:p.Ala409Pro | |
| NM_001386305.1:c.1189G>C | NP_001373234.1:p.Ala397Pro | |
| NM_001386306.1:c.1030G>C | NP_001373235.1:p.Ala344Pro |