Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189043179G= , CM000664.2:g.189043179G= | GRCh38 |
| NC_000002.11:g.189907905G= , CM000664.1:g.189907905G= | GRCh37 |
| NC_000002.10:g.189616150G= | NCBI36 |
| NG_011799.1:g.141701C= | |
| NG_011799.2:g.141701C= | |
| NG_011799.3:g.187123C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3443C= MANE Select | ENSP00000364000.3:p.Thr1148= | |
| ENST00000374866.7:c.3443C= | ENSP00000364000.3:p.Thr1148= | |
| ENST00000618828.1:c.2282C= | ENSP00000482184.1:p.Thr761= | |
| NM_000393.3:c.3443C= | NP_000384.2:p.Thr1148= | |
| XM_011510573.1:c.3305C= | XP_011508875.1:p.Thr1102= | |
| NM_000393.4:c.3443C= | NP_000384.2:p.Thr1148= | |
| XM_011510573.3:c.3305C= | XP_011508875.1:p.Thr1102= | |
| NM_000393.5:c.3443C= MANE Select | NP_000384.2:p.Thr1148= |