Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420585G>T , CM000666.2:g.99420585G>T | GRCh38 |
| NC_000004.11:g.100341742G>T , CM000666.1:g.100341742G>T | GRCh37 |
| NC_000004.10:g.100560765G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.773C>A MANE Select | ENSP00000414254.2:p.Thr258Lys | |
| ENST00000209665.8:c.809C>A | ENSP00000209665.4:p.Thr270Lys | |
| ENST00000437033.6:c.773C>A | ENSP00000414254.2:p.Thr258Lys | |
| ENST00000476959.5:c.833C>A | ENSP00000420269.1:p.Thr278Lys | |
| ENST00000482593.5:c.602C>A | ENSP00000420613.1:p.Thr201Lys | |
| NM_000673.4:c.809C>A | NP_000664.2:p.Thr270Lys | |
| NM_001166504.1:c.833C>A | NP_001159976.1:p.Thr278Lys | |
| NM_000673.7:c.773C>A MANE Select | NP_000664.3:p.Thr258Lys | |
| NM_001166504.2:c.833C>A | NP_001159976.1:p.Thr278Lys |