Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145065A= , CM000670.2:g.96145065A= | GRCh38 |
| NC_000008.10:g.97157293A= , CM000670.1:g.97157293A= | GRCh37 |
| NC_000008.9:g.97226469A= | NCBI36 |
| NG_008981.1:g.20728T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.866T= MANE Select | NP_001001557.1:p.Leu289= |
| ENST00000287020.7:c.866T= MANE Select | ENSP00000287020.4:p.Leu289= |
| NM_001001557.2:c.866T= | NP_001001557.1:p.Leu289= |
| NM_001001557.3:c.866T= | NP_001001557.1:p.Leu289= |
| ENST00000287020.6:c.866T= | ENSP00000287020.4:p.Leu289= |
| ENST00000620978.1:c.793+11T= | ENSP00000480170.1:n.793+11T= |
| ENST00000621429.1:c.866T= | ENSP00000483711.1:p.Leu289= |
| XM_011517030.1:c.467T= | XP_011515332.1:p.Leu156= |