Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270082G= , CM000668.2:g.31270082G= | GRCh38 |
| NC_000006.11:g.31237859G= , CM000668.1:g.31237859G= | GRCh37 |
| NC_000006.10:g.31345838G= | NCBI36 |
| NG_029422.2:g.7050C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.899C= MANE Select | ENSP00000365402.5:p.Pro300= | |
| ENST00000376228.9:c.899C= | ENSP00000365402.5:p.Pro300= | |
| ENST00000376237.8:c.*486C= | ENSP00000365412.4:n.*486C= | |
| ENST00000383329.7:c.899C= | ENSP00000372819.3:p.Pro300= | |
| ENST00000470363.5:n.217C= | ||
| ENST00000487245.5:n.1258C= | ||
| NM_002117.5:c.899C= | NP_002108.4:p.Pro300= | |
| NM_002117.6:c.899C= MANE Select | NP_002108.4:p.Pro300= |