Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17108407G= , CM000684.2:g.17108407G= | GRCh38 |
| NC_000022.10:g.17589297G= , CM000684.1:g.17589297G= | GRCh37 |
| NC_000022.9:g.15969297G= | NCBI36 |
| NG_028257.1:g.28447G= , LRG_355:g.28447G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.1086G= | ENSP00000479970.1:p.Leu362= | |
| ENST00000319363.11:c.1188G= MANE Select | ENSP00000320936.6:p.Leu396= | |
| ENST00000319363.10:c.1188G= | ENSP00000320936.6:p.Leu396= | |
| ENST00000612619.1:c.1086G= | ENSP00000479970.1:p.Leu362= | |
| NM_001289905.1:c.1086G= | NP_001276834.1:p.Leu362= | |
| NM_014339.6:c.1188G= , LRG_355t1:c.1188G= | NP_055154.3:p.Leu396= | |
| NM_014339.7:c.1188G= MANE Select | NP_055154.3:p.Leu396= | |
| NM_001289905.2:c.1086G= | NP_001276834.1:p.Leu362= |