Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21595574C>A , CM000668.2:g.21595574C>A | GRCh38 |
| NC_000006.11:g.21595805C>A , CM000668.1:g.21595805C>A | GRCh37 |
| NC_000006.10:g.21703784C>A | NCBI36 |
| NG_029166.1:g.6834C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.1040C>A MANE Select | NP_003098.1:p.Ser347Ter |
| ENST00000244745.4:c.1040C>A MANE Select | ENSP00000244745.1:p.Ser347Ter |
| NM_003107.2:c.1040C>A | NP_003098.1:p.Ser347Ter |
| ENST00000244745.2:c.1040C>A | ENSP00000244745.1:p.Ser347Ter |