Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046308G= , CM000682.2:g.23046308G= | GRCh38 |
| NC_000020.10:g.23026945G= , CM000682.1:g.23026945G= | GRCh37 |
| NC_000020.9:g.22974945G= | NCBI36 |
| NG_012027.1:g.8357C= , LRG_168:g.8357C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*1469C= MANE Select | NP_000352.1:n.*1469C= |
| ENST00000377103.3:c.*1469C= MANE Select | ENSP00000366307.2:n.*1469C= |
| NM_000361.2:c.*1469C= , LRG_168t1:c.*1469C= | NP_000352.1:n.*1469C= |
| ENST00000377103.2:c.*1469C= | ENSP00000366307.2:n.*1469C= |