Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410800G= , CM000677.2:g.48410800G= | GRCh38 |
| NC_000015.9:g.48702997G= , CM000677.1:g.48702997G= | GRCh37 |
| NC_000015.8:g.46490289G= | NCBI36 |
| NG_008805.2:g.239989C= , LRG_778:g.239989C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1614C= | ENSP00000453958.2:n.*1614C= | |
| ENST00000682158.1:n.2187C= | ||
| ENST00000682170.1:n.2987C= | ||
| ENST00000682767.1:n.2103C= | ||
| ENST00000316623.10:c.*190C= MANE Select | ENSP00000325527.5:n.*190C= | |
| ENST00000316623.9:c.*190C= | ENSP00000325527.5:n.*190C= | |
| ENST00000559133.5:c.4175C= | ||
| NM_000138.4:c.*190C= , LRG_778t1:c.*190C= | NP_000129.3:n.*190C= | |
| NM_000138.5:c.*190C= MANE Select | NP_000129.3:n.*190C= |