Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21200595T= , CM000674.2:g.21200595T= | GRCh38 |
| NC_000012.11:g.21353529T= , CM000674.1:g.21353529T= | GRCh37 |
| NC_000012.10:g.21244796T= | NCBI36 |
| NG_011745.1:g.74402T= , LRG_1022:g.74402T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.1058T= MANE Select | NP_006437.3:p.Ile353= |
| ENST00000256958.3:c.1058T= MANE Select | ENSP00000256958.2:p.Ile353= |
| NM_006446.4:c.1058T= , LRG_1022t1:c.1058T= | NP_006437.3:p.Ile353= |
| ENST00000256958.2:c.1058T= | ENSP00000256958.2:p.Ile353= |