Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050641G= , CM000664.2:g.189050641G= | GRCh38 |
| NC_000002.11:g.189915367G= , CM000664.1:g.189915367G= | GRCh37 |
| NC_000002.10:g.189623612G= | NCBI36 |
| NG_011799.1:g.134239C= | |
| NG_011799.2:g.134239C= | |
| NG_011799.3:g.179661C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2967C= MANE Select | ENSP00000364000.3:p.Thr989= | |
| ENST00000374866.7:c.2967C= | ENSP00000364000.3:p.Thr989= | |
| ENST00000618828.1:c.1806C= | ENSP00000482184.1:p.Thr602= | |
| NM_000393.3:c.2967C= | NP_000384.2:p.Thr989= | |
| XM_011510573.1:c.2829C= | XP_011508875.1:p.Thr943= | |
| NM_000393.4:c.2967C= | NP_000384.2:p.Thr989= | |
| XM_011510573.3:c.2829C= | XP_011508875.1:p.Thr943= | |
| NM_000393.5:c.2967C= MANE Select | NP_000384.2:p.Thr989= |