Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957839T= , CM000669.2:g.142957839T= | GRCh38 |
| NC_000007.13:g.142654926T= , CM000669.1:g.142654926T= | GRCh37 |
| NC_000007.12:g.142365048T= | NCBI36 |
| NG_007492.1:g.9578A= | |
| NG_007492.2:g.9578A= | |
| NG_007492.3:g.9578A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.660A= MANE Select | ENSP00000347409.2:p.Thr220= | |
| ENST00000467543.6:c.*512A= | ENSP00000420011.2:n.*512A= | |
| ENST00000355265.6:c.660A= | ENSP00000347409.2:p.Thr220= | |
| ENST00000467543.5:c.603A= | ENSP00000420011.1:p.Thr201= | |
| ENST00000476829.5:c.525+465A= | ENSP00000419889.1:n.525+465A= | |
| ENST00000479768.6:n.778A= | ||
| ENST00000494148.1:n.259A= | ||
| NM_000420.2:c.660A= | NP_000411.1:p.Thr220= | |
| XM_005249993.2:c.696A= | XP_005250050.1:p.Thr232= | |
| NM_000420.3:c.660A= MANE Select | NP_000411.1:p.Thr220= |