Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96287126A>G , CM000670.2:g.96287126A>G | GRCh38 |
| NC_000008.10:g.97299354A>G , CM000670.1:g.97299354A>G | GRCh37 |
| NC_000008.9:g.97368530A>G | NCBI36 |
| NG_034054.1:g.30241A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517309.6:c.421A>G MANE Select | ENSP00000430548.1:p.Thr141Ala | |
| ENST00000337004.8:c.272-7972A>G | ENSP00000337331.4:n.272-7972A>G | |
| ENST00000517309.5:c.421A>G | ENSP00000430548.1:p.Thr141Ala | |
| ENST00000517557.5:n.495A>G | ||
| ENST00000518776.1:n.317A>G | ||
| NM_001290225.1:c.4-7972A>G | NP_001277154.1:n.4-7972A>G | |
| NM_014754.2:c.421A>G | NP_055569.1:p.Thr141Ala | |
| NM_001290225.2:c.4-7972A>G | NP_001277154.1:n.4-7972A>G | |
| NM_014754.3:c.421A>G MANE Select | NP_055569.1:p.Thr141Ala |