Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23049375T= , CM000682.2:g.23049375T= | GRCh38 |
| NC_000020.10:g.23030012T= , CM000682.1:g.23030012T= | GRCh37 |
| NC_000020.9:g.22978012T= | NCBI36 |
| NG_012027.1:g.5290A= , LRG_168:g.5290A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.130A= MANE Select | ENSP00000366307.2:p.Thr44= | |
| ENST00000377103.2:c.130A= | ENSP00000366307.2:p.Thr44= | |
| NM_000361.2:c.130A= , LRG_168t1:c.130A= | NP_000352.1:p.Thr44= | |
| NM_000361.3:c.130A= MANE Select | NP_000352.1:p.Thr44= |