Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764111A>G , CM000674.2:g.57764111A>G | GRCh38 |
| NC_000012.11:g.58157894A>G , CM000674.1:g.58157894A>G | GRCh37 |
| NC_000012.10:g.56444161A>G | NCBI36 |
| NG_007076.1:g.8083T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1283T>C | ENSP00000518840.1:p.Ile428Thr | |
| ENST00000713545.1:c.*207T>C | ENSP00000518841.1:n.*207T>C | |
| ENST00000228606.9:c.1202T>C MANE Select | ENSP00000228606.4:p.Ile401Thr | |
| ENST00000228606.8:c.1202T>C | ENSP00000228606.4:p.Ile401Thr | |
| ENST00000547344.5:n.1341T>C | ||
| NM_000785.3:c.1202T>C | NP_000776.1:p.Ile401Thr | |
| NM_000785.4:c.1202T>C MANE Select | NP_000776.1:p.Ile401Thr |