Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794586G= , CM000671.2:g.77794586G= | GRCh38 |
| NC_000009.11:g.80409502G= , CM000671.1:g.80409502G= | GRCh37 |
| NC_000009.10:g.79599322G= | NCBI36 |
| NG_027904.2:g.241718C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.612C= MANE Select | ENSP00000286548.4:p.Val204= | |
| ENST00000286548.8:c.612C= | ENSP00000286548.4:p.Val204= | |
| NM_002072.4:c.612C= | NP_002063.2:p.Val204= | |
| XM_017014628.2:c.438C= | XP_016870117.1:p.Val146= | |
| NM_002072.5:c.612C= MANE Select | NP_002063.2:p.Val204= |