Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050640C= , CM000664.2:g.189050640C= | GRCh38 |
| NC_000002.11:g.189915366C= , CM000664.1:g.189915366C= | GRCh37 |
| NC_000002.10:g.189623611C= | NCBI36 |
| NG_011799.1:g.134240G= | |
| NG_011799.2:g.134240G= | |
| NG_011799.3:g.179662G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.2968G= MANE Select | NP_000384.2:p.Gly990= |
| ENST00000374866.9:c.2968G= MANE Select | ENSP00000364000.3:p.Gly990= |
| NM_000393.3:c.2968G= | NP_000384.2:p.Gly990= |
| NM_000393.4:c.2968G= | NP_000384.2:p.Gly990= |
| ENST00000374866.7:c.2968G= | ENSP00000364000.3:p.Gly990= |
| ENST00000618828.1:c.1807G= | ENSP00000482184.1:p.Gly603= |
| XM_011510573.1:c.2830G= | XP_011508875.1:p.Gly944= |
| XM_011510573.3:c.2830G= | XP_011508875.1:p.Gly944= |