Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046396G= , CM000667.2:g.136046396G= | GRCh38 |
| NC_000005.9:g.135382085G= , CM000667.1:g.135382085G= | GRCh37 |
| NC_000005.8:g.135409984G= | NCBI36 |
| NG_012646.1:g.22502G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.360G= MANE Select | ENSP00000416330.2:p.Leu120= | |
| ENST00000442011.6:c.360G= | ENSP00000416330.2:p.Leu120= | |
| ENST00000504185.5:n.517G= | ||
| ENST00000506699.5:n.425G= | ||
| ENST00000507018.5:c.277G= | ||
| ENST00000515433.1:n.652G= | ||
| NM_000358.2:c.360G= | NP_000349.1:p.Leu120= | |
| NM_000358.3:c.360G= MANE Select | NP_000349.1:p.Leu120= |