Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519854C>A , CM000674.2:g.52519854C>A | GRCh38 |
| NC_000012.11:g.52913638C>A , CM000674.1:g.52913638C>A | GRCh37 |
| NC_000012.10:g.51199905C>A | NCBI36 |
| NG_008297.1:g.5606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.443G>T MANE Select | ENSP00000252242.4:p.Ser148Ile | |
| ENST00000252242.8:c.443G>T | ENSP00000252242.4:p.Ser148Ile | |
| ENST00000549420.1:c.113G>T | ENSP00000447209.1:p.Ser38Ile | |
| ENST00000551275.1:c.338G>T | ENSP00000448041.1:p.Ser113Ile | |
| ENST00000552629.5:n.541G>T | ||
| NM_000424.3:c.443G>T | NP_000415.2:p.Ser148Ile | |
| NM_000424.4:c.443G>T MANE Select | NP_000415.2:p.Ser148Ile |