Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927774A= , CM000663.2:g.42927774A= | GRCh38 |
| NC_000001.10:g.43393445A= , CM000663.1:g.43393445A= | GRCh37 |
| NC_000001.9:g.43166032A= | NCBI36 |
| NG_008232.1:g.36403T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1109T= MANE Select | ENSP00000416293.2:p.Val370= | |
| ENST00000674545.1:n.1726T= | ||
| ENST00000674765.1:c.1030-917T= | ENSP00000501811.1:n.1030-917T= | |
| ENST00000675112.1:n.1410T= | ||
| ENST00000676254.1:n.1558T= | ||
| ENST00000426263.7:c.1109T= | ENSP00000416293.2:p.Val370= | |
| ENST00000475162.3:c.416-796T= | ||
| ENST00000630287.2:c.*424T= | ENSP00000486694.1:n.*424T= | |
| NM_006516.2:c.1109T= | NP_006507.2:p.Val370= | |
| NM_006516.3:c.1109T= | NP_006507.2:p.Val370= | |
| NM_006516.4:c.1109T= MANE Select | NP_006507.2:p.Val370= |