Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753093G= , CM000673.2:g.64753093G= | GRCh38 |
| NC_000011.9:g.64520565G= , CM000673.1:g.64520565G= | GRCh37 |
| NC_000011.8:g.64277141G= | NCBI36 |
| NG_013018.1:g.12623C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1498C= MANE Select | ENSP00000164139.3:p.Leu500= | |
| ENST00000164139.3:c.1498C= | ENSP00000164139.3:p.Leu500= | |
| ENST00000377432.7:c.1234C= | ENSP00000366650.3:p.Leu412= | |
| NM_001164716.1:c.1234C= | NP_001158188.1:p.Leu412= | |
| NM_005609.2:c.1498C= | NP_005600.1:p.Leu500= | |
| NM_005609.3:c.1498C= | NP_005600.1:p.Leu500= | |
| NM_005609.4:c.1498C= MANE Select | NP_005600.1:p.Leu500= |