Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43082648T>A , CM000677.2:g.43082648T>A | GRCh38 |
| NC_000015.9:g.43374846T>A , CM000677.1:g.43374846T>A | GRCh37 |
| NC_000015.8:g.41162138T>A | NCBI36 |
| NG_012182.1:g.28441A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.407A>T MANE Select | NP_777576.1:p.His136Leu |
| ENST00000290650.9:c.407A>T MANE Select | ENSP00000290650.4:p.His136Leu |
| NM_174916.2:c.407A>T | NP_777576.1:p.His136Leu |
| ENST00000290650.8:c.407A>T | ENSP00000290650.4:p.His136Leu |
| ENST00000546274.6:c.407A>T | ENSP00000477932.1:p.His136Leu |
| ENST00000563239.1:c.*54A>T | ENSP00000456502.1:n.*54A>T |