Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035106G= , CM000664.2:g.189035106G= | GRCh38 |
| NC_000002.11:g.189899832G= , CM000664.1:g.189899832G= | GRCh37 |
| NC_000002.10:g.189608077G= | NCBI36 |
| NG_011799.1:g.149774C= | |
| NG_011799.2:g.149774C= | |
| NG_011799.3:g.195196C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4163C= MANE Select | NP_000384.2:p.Thr1388= |
| ENST00000374866.9:c.4163C= MANE Select | ENSP00000364000.3:p.Thr1388= |
| NM_000393.3:c.4163C= | NP_000384.2:p.Thr1388= |
| NM_000393.4:c.4163C= | NP_000384.2:p.Thr1388= |
| ENST00000374866.7:c.4163C= | ENSP00000364000.3:p.Thr1388= |
| ENST00000618828.1:c.3002C= | ENSP00000482184.1:p.Thr1001= |
| XM_011510573.1:c.4025C= | XP_011508875.1:p.Thr1342= |
| XM_011510573.3:c.4025C= | XP_011508875.1:p.Thr1342= |