Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997081T= , CM000685.2:g.154997081T= | GRCh38 |
| NC_000023.10:g.154225356T= , CM000685.1:g.154225356T= | GRCh37 |
| NC_000023.9:g.153878550T= | NCBI36 |
| NG_011403.1:g.30643A= | |
| NG_011403.2:g.30643A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.280A= MANE Select | ENSP00000353393.4:p.Thr94= | |
| ENST00000647125.1:c.*66A= | ENSP00000496062.1:n.*66A= | |
| ENST00000360256.8:c.280A= | ENSP00000353393.4:p.Thr94= | |
| ENST00000423959.5:c.175A= | ENSP00000409446.1:p.Thr59= | |
| ENST00000453950.1:c.262A= | ENSP00000389153.1:p.Thr88= | |
| NM_000132.3:c.280A= | NP_000123.1:p.Thr94= | |
| XM_011531126.1:c.175A= | XP_011529428.1:p.Thr59= | |
| NM_000132.4:c.280A= MANE Select | NP_000123.1:p.Thr94= |