Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839998G= , CM000674.2:g.121839998G= | GRCh38 |
| NC_000012.11:g.122277904G= , CM000674.1:g.122277904G= | GRCh37 |
| NC_000012.10:g.120762287G= | NCBI36 |
| NG_016461.1:g.53614C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.1005C= MANE Select | ENSP00000289004.4:p.Ile335= | |
| ENST00000543163.5:c.888C= | ENSP00000441677.1:p.Ile296= | |
| NM_001171993.1:c.888C= | NP_001165464.1:p.Ile296= | |
| NM_002150.2:c.1005C= | NP_002141.1:p.Ile335= | |
| NM_002150.3:c.1005C= MANE Select | NP_002141.2:p.Ile335= | |
| NM_001171993.2:c.888C= | NP_001165464.1:p.Ile296= |