ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.880
ENST00000351522
0.880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904010C>G , CM000663.2:g.173904010C>G | GRCh38 |
| NC_000001.10:g.173873148C>G , CM000663.1:g.173873148C>G | GRCh37 |
| NC_000001.9:g.172139771C>G | NCBI36 |
| NG_012462.1:g.18369G>C , LRG_577:g.18369G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1274G>C MANE Select | ENSP00000356671.3:p.Arg425Pro | |
| ENST00000367698.3:c.1274G>C | ENSP00000356671.3:p.Arg425Pro | |
| ENST00000617423.4:c.659G>C | ENSP00000478688.1:p.Arg220Pro | |
| NM_000488.3:c.1274G>C , LRG_577t1:c.1274G>C | NP_000479.1:p.Arg425Pro | |
| XM_005245198.2:c.1130G>C | XP_005245255.1:p.Arg377Pro | |
| NM_001365052.1:c.1130G>C | NP_001351981.1:p.Arg377Pro | |
| NM_000488.4:c.1274G>C MANE Select | NP_000479.1:p.Arg425Pro | |
| NM_001365052.2:c.1130G>C | NP_001351981.1:p.Arg377Pro | |
| NM_001386302.1:c.1397G>C | NP_001373231.1:p.Arg466Pro | |
| NM_001386303.1:c.1355G>C | NP_001373232.1:p.Arg452Pro | |
| NM_001386304.1:c.1253G>C | NP_001373233.1:p.Arg418Pro | |
| NM_001386305.1:c.1217G>C | NP_001373234.1:p.Arg406Pro | |
| NM_001386306.1:c.1058G>C | NP_001373235.1:p.Arg353Pro |