Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154162A= , CM000681.2:g.55154162A= | GRCh38 |
| NC_000019.9:g.55665530A= , CM000681.1:g.55665530A= | GRCh37 |
| NC_000019.8:g.60357342A= | NCBI36 |
| NG_007866.2:g.8571T= , LRG_432:g.8571T= | |
| NG_011829.2:g.77T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.417T= MANE Select | ENSP00000341838.5:p.Phe139= | |
| ENST00000665070.1:c.450T= | ENSP00000499482.1:p.Phe150= | |
| ENST00000344887.9:c.417T= | ENSP00000341838.5:p.Phe139= | |
| ENST00000585806.5:n.416T= | ||
| ENST00000586669.5:n.425T= | ||
| ENST00000588882.1:c.342T= | ENSP00000466729.1:p.Phe114= | |
| ENST00000589864.1:n.245T= | ||
| NM_000363.4:c.417T= , LRG_432t1:c.417T= | NP_000354.4:p.Phe139= | |
| NM_000363.5:c.417T= MANE Select | NP_000354.4:p.Phe139= |