Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933953G= , CM000681.2:g.7933953G= | GRCh38 |
| NC_000019.9:g.7998838G= , CM000681.1:g.7998838G= | GRCh37 |
| NC_000019.8:g.7904838G= | NCBI36 |
| NG_051180.1:g.14871C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.594C= MANE Select | ENSP00000270538.2:p.Thr198= | |
| ENST00000270538.7:c.594C= | ENSP00000270538.2:p.Thr198= | |
| ENST00000595831.5:c.581C= | ||
| ENST00000595876.5:c.*282C= | ENSP00000471596.1:n.*282C= | |
| ENST00000597926.1:c.498C= | ENSP00000469389.1:p.Thr166= | |
| ENST00000600748.5:n.579C= | ||
| NM_006351.3:c.594C= | NP_006342.2:p.Thr198= | |
| NM_006351.4:c.594C= MANE Select | NP_006342.2:p.Thr198= |