Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422863C= , CM000663.2:g.119422863C= | GRCh38 |
| NC_000001.10:g.119965486C= , CM000663.1:g.119965486C= | GRCh37 |
| NC_000001.9:g.119767009C= | NCBI36 |
| NG_013349.1:g.12933C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.*243C= MANE Select | ENSP00000358424.3:n.*243C= | |
| ENST00000369416.3:c.*243C= | ENSP00000358424.3:n.*243C= | |
| ENST00000543831.5:c.*243C= | ENSP00000445122.1:n.*243C= | |
| NM_000198.3:c.*243C= | NP_000189.1:n.*243C= | |
| NM_001166120.1:c.*243C= | NP_001159592.1:n.*243C= | |
| NM_000198.4:c.*243C= MANE Select | NP_000189.1:n.*243C= | |
| NM_001166120.2:c.*243C= | NP_001159592.1:n.*243C= |