Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035125T= , CM000664.2:g.189035125T= | GRCh38 |
| NC_000002.11:g.189899851T= , CM000664.1:g.189899851T= | GRCh37 |
| NC_000002.10:g.189608096T= | NCBI36 |
| NG_011799.1:g.149755A= | |
| NG_011799.2:g.149755A= | |
| NG_011799.3:g.195177A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4144A= MANE Select | ENSP00000364000.3:p.Thr1382= | |
| ENST00000374866.7:c.4144A= | ENSP00000364000.3:p.Thr1382= | |
| ENST00000618828.1:c.2983A= | ENSP00000482184.1:p.Thr995= | |
| NM_000393.3:c.4144A= | NP_000384.2:p.Thr1382= | |
| XM_011510573.1:c.4006A= | XP_011508875.1:p.Thr1336= | |
| NM_000393.4:c.4144A= | NP_000384.2:p.Thr1382= | |
| XM_011510573.3:c.4006A= | XP_011508875.1:p.Thr1336= | |
| NM_000393.5:c.4144A= MANE Select | NP_000384.2:p.Thr1382= |