Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519815A>G , CM000674.2:g.52519815A>G | GRCh38 |
| NC_000012.11:g.52913599A>G , CM000674.1:g.52913599A>G | GRCh37 |
| NC_000012.10:g.51199866A>G | NCBI36 |
| NG_008297.1:g.5645T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.482T>C MANE Select | NP_000415.2:p.Ile161Thr |
| ENST00000252242.9:c.482T>C MANE Select | ENSP00000252242.4:p.Ile161Thr |
| NM_000424.3:c.482T>C | NP_000415.2:p.Ile161Thr |
| ENST00000252242.8:c.482T>C | ENSP00000252242.4:p.Ile161Thr |
| ENST00000549420.1:c.152T>C | ENSP00000447209.1:p.Ile51Thr |
| ENST00000551275.1:c.377T>C | ENSP00000448041.1:p.Ile126Thr |
| ENST00000552629.5:n.580T>C |