Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269533A= , CM000668.2:g.31269533A= | GRCh38 |
| NC_000006.11:g.31237310A= , CM000668.1:g.31237310A= | GRCh37 |
| NC_000006.10:g.31345289A= | NCBI36 |
| NG_029422.2:g.7599T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1016-8T= MANE Select | ENSP00000365402.5:n.1016-8T= | |
| ENST00000376228.9:c.1016-8T= | ENSP00000365402.5:n.1016-8T= | |
| ENST00000376237.8:c.*603-8T= | ENSP00000365412.4:n.*603-8T= | |
| ENST00000383329.7:c.1026T= | ENSP00000372819.3:p.Leu342= | |
| ENST00000466892.5:n.134T= | ||
| ENST00000470363.5:n.766T= | ||
| ENST00000487245.5:n.1375-8T= | ||
| NM_002117.5:c.1016-8T= | NP_002108.4:n.1016-8T= | |
| NM_002117.6:c.1016-8T= MANE Select | NP_002108.4:n.1016-8T= |