Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269527T= , CM000668.2:g.31269527T= | GRCh38 |
| NC_000006.11:g.31237304T= , CM000668.1:g.31237304T= | GRCh37 |
| NC_000006.10:g.31345283T= | NCBI36 |
| NG_029422.2:g.7605A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1016-2A= MANE Select | ENSP00000365402.5:n.1016-2A= | |
| ENST00000376228.9:c.1016-2A= | ENSP00000365402.5:n.1016-2A= | |
| ENST00000376237.8:c.*603-2A= | ENSP00000365412.4:n.*603-2A= | |
| ENST00000383329.7:c.1032A= | ENSP00000372819.3:p.Thr344= | |
| ENST00000466892.5:n.140A= | ||
| ENST00000470363.5:n.772A= | ||
| ENST00000487245.5:n.1375-2A= | ||
| NM_002117.5:c.1016-2A= | NP_002108.4:n.1016-2A= | |
| NM_002117.6:c.1016-2A= MANE Select | NP_002108.4:n.1016-2A= |