Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124868925T>C , CM000673.2:g.124868925T>C | GRCh38 |
| NC_000011.9:g.124738821T>C , CM000673.1:g.124738821T>C | GRCh37 |
| NC_000011.8:g.124244031T>C | NCBI36 |
| NG_016214.1:g.8517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.284T>C MANE Select | ENSP00000380903.1:p.Ile95Thr | |
| ENST00000397801.5:c.284T>C | ENSP00000380903.1:p.Ile95Thr | |
| ENST00000538940.5:c.218T>C | ENSP00000441797.1:p.Ile73Thr | |
| NM_022370.3:c.284T>C | NP_071765.2:p.Ile95Thr | |
| XM_011542953.1:c.1256T>C | XP_011541255.1:p.Ile419Thr | |
| XM_017018122.1:c.218T>C | XP_016873611.1:p.Ile73Thr | |
| NM_022370.4:c.284T>C MANE Select | NP_071765.2:p.Ile95Thr |