Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121849052G>A , CM000674.2:g.121849052G>A | GRCh38 |
| NC_000012.11:g.122286958G>A , CM000674.1:g.122286958G>A | GRCh37 |
| NC_000012.10:g.120771341G>A | NCBI36 |
| NG_016461.1:g.44560C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.543C>T MANE Select | NP_002141.2:p.Ile181= |
| ENST00000289004.8:c.543C>T MANE Select | ENSP00000289004.4:p.Ile181= |
| NM_001171993.1:c.426C>T | NP_001165464.1:p.Ile142= |
| NM_001171993.2:c.426C>T | NP_001165464.1:p.Ile142= |
| NM_002150.2:c.543C>T | NP_002141.1:p.Ile181= |
| ENST00000542159.2:n.727C>T | |
| ENST00000543163.5:c.426C>T | ENSP00000441677.1:p.Ile142= |