Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23045634G= , CM000682.2:g.23045634G= | GRCh38 |
| NC_000020.10:g.23026271G= , CM000682.1:g.23026271G= | GRCh37 |
| NC_000020.9:g.22974271G= | NCBI36 |
| NG_012027.1:g.9031C= , LRG_168:g.9031C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*2143C= MANE Select | NP_000352.1:n.*2143C= |
| ENST00000377103.3:c.*2143C= MANE Select | ENSP00000366307.2:n.*2143C= |
| NM_000361.2:c.*2143C= , LRG_168t1:c.*2143C= | NP_000352.1:n.*2143C= |
| ENST00000377103.2:c.*2143C= | ENSP00000366307.2:n.*2143C= |