Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78113767T= , CM000685.2:g.78113767T= | GRCh38 |
| NC_000023.10:g.77369264T= , CM000685.1:g.77369264T= | GRCh37 |
| NC_000023.9:g.77255920T= | NCBI36 |
| NG_008862.1:g.14599T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.140T= MANE Select | NP_000282.1:p.Ile47= |
| ENST00000373316.5:c.140T= MANE Select | ENSP00000362413.4:p.Ile47= |
| NM_000291.3:c.140T= | NP_000282.1:p.Ile47= |
| ENST00000373316.4:c.140T= | ENSP00000362413.4:p.Ile47= |
| ENST00000477335.5:n.276T= | |
| ENST00000491291.1:n.132T= | |
| ENST00000644362.1:c.56T= | ENSP00000496140.1:p.Ile19= |