Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174595T= , CM000674.2:g.21174595T= | GRCh38 |
| NC_000012.11:g.21327529T= , CM000674.1:g.21327529T= | GRCh37 |
| NC_000012.10:g.21218796T= | NCBI36 |
| NG_011745.1:g.48402T= , LRG_1022:g.48402T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.245T= MANE Select | NP_006437.3:p.Val82= |
| ENST00000256958.3:c.245T= MANE Select | ENSP00000256958.2:p.Val82= |
| NM_006446.4:c.245T= , LRG_1022t1:c.245T= | NP_006437.3:p.Val82= |
| ENST00000256958.2:c.245T= | ENSP00000256958.2:p.Val82= |
| ENST00000543498.5:c.426-2181T= |