Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8059742C= , CM000674.2:g.8059742C= | GRCh38 |
| NC_000012.11:g.8212338C= , CM000674.1:g.8212338C= | GRCh37 |
| NC_000012.10:g.8103605C= | NCBI36 |
| NG_050736.1:g.11730G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307637.5:c.444G= MANE Select | ENSP00000302079.4:p.Val148= | |
| ENST00000307637.4:c.444G= | ENSP00000302079.4:p.Val148= | |
| NM_004054.2:c.444G= | NP_004045.1:p.Val148= | |
| NM_001326475.1:c.444G= | NP_001313404.1:p.Val148= | |
| NM_001326477.1:c.444G= | NP_001313406.1:p.Val148= | |
| NM_004054.3:c.444G= | NP_004045.1:p.Val148= | |
| NM_001326475.2:c.444G= | NP_001313404.1:p.Val148= | |
| NM_001326477.2:c.444G= | NP_001313406.1:p.Val148= | |
| NM_004054.4:c.444G= MANE Select | NP_004045.1:p.Val148= |