Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675833T= , CM000685.2:g.38675833T= | GRCh38 |
| NC_000023.10:g.38535087T= , CM000685.1:g.38535087T= | GRCh37 |
| NC_000023.9:g.38420031T= | NCBI36 |
| NG_009160.1:g.119357T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.570T= MANE Select | ENSP00000367743.2:p.Thr190= | |
| ENST00000286824.6:c.621T= | ENSP00000286824.6:p.Thr207= | |
| ENST00000378482.6:c.570T= | ENSP00000367743.2:p.Thr190= | |
| ENST00000419600.3:n.514T= | ||
| ENST00000465127.1:c.660T= | ENSP00000417050.1:p.Thr220= | |
| ENST00000471410.5:c.*596T= | ENSP00000419290.1:n.*596T= | |
| ENST00000475216.5:c.*563T= | ENSP00000418586.1:n.*563T= | |
| NM_004615.3:c.570T= | NP_004606.2:p.Thr190= | |
| NM_004615.4:c.570T= MANE Select | NP_004606.2:p.Thr190= |