ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
Revel Score:
ENST00000367698 (MANE Select)
0.707
ENST00000351522
0.707
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914726G>T , CM000663.2:g.173914726G>T | GRCh38 |
| NC_000001.10:g.173883864G>T , CM000663.1:g.173883864G>T | GRCh37 |
| NC_000001.9:g.172150487G>T | NCBI36 |
| NG_012462.1:g.7653C>A , LRG_577:g.7653C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.235C>A MANE Select | ENSP00000356671.3:p.Arg79Ser | |
| ENST00000367698.3:c.235C>A | ENSP00000356671.3:p.Arg79Ser | |
| ENST00000494024.1:n.461C>A | ||
| ENST00000617423.4:c.235C>A | ENSP00000478688.1:p.Arg79Ser | |
| NM_000488.3:c.235C>A , LRG_577t1:c.235C>A | NP_000479.1:p.Arg79Ser | |
| XM_005245198.2:c.91C>A | XP_005245255.1:p.Arg31Ser | |
| NM_001365052.1:c.91C>A | NP_001351981.1:p.Arg31Ser | |
| NM_000488.4:c.235C>A MANE Select | NP_000479.1:p.Arg79Ser | |
| NM_001365052.2:c.91C>A | NP_001351981.1:p.Arg31Ser | |
| NM_001386302.1:c.235C>A | NP_001373231.1:p.Arg79Ser | |
| NM_001386303.1:c.316C>A | NP_001373232.1:p.Arg106Ser | |
| NM_001386304.1:c.235C>A | NP_001373233.1:p.Arg79Ser | |
| NM_001386305.1:c.235C>A | NP_001373234.1:p.Arg79Ser | |
| NM_001386306.1:c.235C>A | NP_001373235.1:p.Arg79Ser |