ClinGen Evidence Repository:
Classification
Pathogenic
Condition
antithrombin III deficiency
VCEP
Thrombosis VCEP
COSMIC:
Revel Score:
ENST00000367698 (MANE Select)
0.880
ENST00000351522
0.880
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904007G>A , CM000663.2:g.173904007G>A | GRCh38 |
| NC_000001.10:g.173873145G>A , CM000663.1:g.173873145G>A | GRCh37 |
| NC_000001.9:g.172139768G>A | NCBI36 |
| NG_012462.1:g.18372C>T , LRG_577:g.18372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1277C>T MANE Select | ENSP00000356671.3:p.Ser426Leu | |
| ENST00000367698.3:c.1277C>T | ENSP00000356671.3:p.Ser426Leu | |
| ENST00000617423.4:c.662C>T | ENSP00000478688.1:p.Ser221Leu | |
| NM_000488.3:c.1277C>T , LRG_577t1:c.1277C>T | NP_000479.1:p.Ser426Leu | |
| XM_005245198.2:c.1133C>T | XP_005245255.1:p.Ser378Leu | |
| NM_001365052.1:c.1133C>T | NP_001351981.1:p.Ser378Leu | |
| NM_000488.4:c.1277C>T MANE Select | NP_000479.1:p.Ser426Leu | |
| NM_001365052.2:c.1133C>T | NP_001351981.1:p.Ser378Leu | |
| NM_001386302.1:c.1400C>T | NP_001373231.1:p.Ser467Leu | |
| NM_001386303.1:c.1358C>T | NP_001373232.1:p.Ser453Leu | |
| NM_001386304.1:c.1256C>T | NP_001373233.1:p.Ser419Leu | |
| NM_001386305.1:c.1220C>T | NP_001373234.1:p.Ser407Leu | |
| NM_001386306.1:c.1061C>T | NP_001373235.1:p.Ser354Leu |