Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954272G>A , CM000669.2:g.142954272G>A | GRCh38 |
| NC_000007.13:g.142651359G>A , CM000669.1:g.142651359G>A | GRCh37 |
| NC_000007.12:g.142361481G>A | NCBI36 |
| NG_007492.1:g.13145C>T | |
| NG_007492.2:g.13145C>T | |
| NG_007492.3:g.13145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.836C>T MANE Select | ENSP00000347409.2:p.Thr279Ile | |
| ENST00000355265.6:c.836C>T | ENSP00000347409.2:p.Thr279Ile | |
| ENST00000479768.6:n.954C>T | ||
| NM_000420.2:c.836C>T | NP_000411.1:p.Thr279Ile | |
| XM_005249993.2:c.872C>T | XP_005250050.1:p.Thr291Ile | |
| XM_005249994.3:c.-112C>T | XP_005250051.1:n.-112C>T | |
| NM_000420.3:c.836C>T MANE Select | NP_000411.1:p.Thr279Ile |