Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354713A= , CM000671.2:g.133354713A= | GRCh38 |
| NC_000009.10:g.135211389A= | NCBI36 |
| NG_008477.1:g.6794T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.269T= MANE Select | NP_003163.1:p.Leu90= |
| ENST00000371974.8:c.269T= MANE Select | ENSP00000361042.3:p.Leu90= |
| NM_001280787.1:c.-59T= | NP_001267716.1:n.-59T= |
| NM_003172.3:c.269T= | NP_003163.1:p.Leu90= |
| ENST00000371974.7:c.269T= | ENSP00000361042.3:p.Leu90= |
| ENST00000437995.1:n.215T= | |
| ENST00000615505.4:c.-59T= | ENSP00000482067.1:n.-59T= |
| XM_011518942.1:c.-59T= | XP_011517244.1:n.-59T= |