ClinGen Evidence Repository:
Classification
Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
COSMIC:
Revel Score:
ENST00000367698 (MANE Select)
0.702
ENST00000351522
0.702
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025947 (NFE)
Genomes Max Group AF
0.00023034 (NFE)
Exomes Max Group AF
0.00025558 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914725C>T , CM000663.2:g.173914725C>T | GRCh38 |
| NC_000001.10:g.173883863C>T , CM000663.1:g.173883863C>T | GRCh37 |
| NC_000001.9:g.172150486C>T | NCBI36 |
| NG_012462.1:g.7654G>A , LRG_577:g.7654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.236G>A MANE Select | ENSP00000356671.3:p.Arg79His | |
| ENST00000367698.3:c.236G>A | ENSP00000356671.3:p.Arg79His | |
| ENST00000494024.1:n.462G>A | ||
| ENST00000617423.4:c.236G>A | ENSP00000478688.1:p.Arg79His | |
| NM_000488.3:c.236G>A , LRG_577t1:c.236G>A | NP_000479.1:p.Arg79His | |
| XM_005245198.2:c.92G>A | XP_005245255.1:p.Arg31His | |
| NM_001365052.1:c.92G>A | NP_001351981.1:p.Arg31His | |
| NM_000488.4:c.236G>A MANE Select | NP_000479.1:p.Arg79His | |
| NM_001365052.2:c.92G>A | NP_001351981.1:p.Arg31His | |
| NM_001386302.1:c.236G>A | NP_001373231.1:p.Arg79His | |
| NM_001386303.1:c.317G>A | NP_001373232.1:p.Arg106His | |
| NM_001386304.1:c.236G>A | NP_001373233.1:p.Arg79His | |
| NM_001386305.1:c.236G>A | NP_001373234.1:p.Arg79His | |
| NM_001386306.1:c.236G>A | NP_001373235.1:p.Arg79His |