Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64757794C= , CM000673.2:g.64757794C= | GRCh38 |
| NC_000011.9:g.64525266C= , CM000673.1:g.64525266C= | GRCh37 |
| NC_000011.8:g.64281842C= | NCBI36 |
| NG_013018.1:g.7922G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.645G= MANE Select | ENSP00000164139.3:p.Lys215= | |
| ENST00000164139.3:c.645G= | ENSP00000164139.3:p.Lys215= | |
| ENST00000377432.7:c.381G= | ENSP00000366650.3:p.Lys127= | |
| NM_001164716.1:c.381G= | NP_001158188.1:p.Lys127= | |
| NM_005609.2:c.645G= | NP_005600.1:p.Lys215= | |
| NM_005609.3:c.645G= | NP_005600.1:p.Lys215= | |
| NM_005609.4:c.645G= MANE Select | NP_005600.1:p.Lys215= |