Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78125344A= , CM000685.2:g.78125344A= | GRCh38 |
| NC_000023.10:g.77380841A= , CM000685.1:g.77380841A= | GRCh37 |
| NC_000023.9:g.77267497A= | NCBI36 |
| NG_008862.1:g.26176A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.1132A= MANE Select | NP_000282.1:p.Thr378= |
| ENST00000373316.5:c.1132A= MANE Select | ENSP00000362413.4:p.Thr378= |
| NM_000291.3:c.1132A= | NP_000282.1:p.Thr378= |
| ENST00000373316.4:c.1132A= | ENSP00000362413.4:p.Thr378= |
| ENST00000476531.1:n.401A= | |
| ENST00000644362.1:c.1048A= | ENSP00000496140.1:p.Thr350= |