Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954275A>G , CM000669.2:g.142954275A>G | GRCh38 |
| NC_000007.13:g.142651362A>G , CM000669.1:g.142651362A>G | GRCh37 |
| NC_000007.12:g.142361484A>G | NCBI36 |
| NG_007492.1:g.13142T>C | |
| NG_007492.2:g.13142T>C | |
| NG_007492.3:g.13142T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.833T>C MANE Select | ENSP00000347409.2:p.Ile278Thr | |
| ENST00000355265.6:c.833T>C | ENSP00000347409.2:p.Ile278Thr | |
| ENST00000479768.6:n.951T>C | ||
| NM_000420.2:c.833T>C | NP_000411.1:p.Ile278Thr | |
| XM_005249993.2:c.869T>C | XP_005250050.1:p.Ile290Thr | |
| XM_005249994.3:c.-115T>C | XP_005250051.1:n.-115T>C | |
| NM_000420.3:c.833T>C MANE Select | NP_000411.1:p.Ile278Thr |