Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098807T= , CM000664.2:g.189098807T= | GRCh38 |
| NC_000002.11:g.189963533T= , CM000664.1:g.189963533T= | GRCh37 |
| NC_000002.10:g.189671778T= | NCBI36 |
| NG_011799.1:g.86073A= | |
| NG_011799.2:g.86073A= | |
| NG_011799.3:g.131495A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.370-48A= MANE Select | ENSP00000364000.3:n.370-48A= | |
| ENST00000649966.1:c.232-48A= | ENSP00000496785.1:n.232-48A= | |
| ENST00000374866.7:c.370-48A= | ENSP00000364000.3:n.370-48A= | |
| ENST00000618828.1:c.-261-48A= | ENSP00000482184.1:n.-261-48A= | |
| NM_000393.3:c.370-48A= | NP_000384.2:n.370-48A= | |
| XM_011510573.1:c.232-48A= | XP_011508875.1:n.232-48A= | |
| NM_000393.4:c.370-48A= | NP_000384.2:n.370-48A= | |
| XM_011510573.3:c.232-48A= | XP_011508875.1:n.232-48A= | |
| NM_000393.5:c.370-48A= MANE Select | NP_000384.2:n.370-48A= |