Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420780G= , CM000677.2:g.48420780G= | GRCh38 |
| NC_000015.9:g.48712977G= , CM000677.1:g.48712977G= | GRCh37 |
| NC_000015.8:g.46500269G= | NCBI36 |
| NG_008805.2:g.230009C= , LRG_778:g.230009C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.7726C= MANE Select | NP_000129.3:p.Arg2576= |
| ENST00000316623.10:c.7726C= MANE Select | ENSP00000325527.5:p.Arg2576= |
| NM_000138.4:c.7726C= , LRG_778t1:c.7726C= | NP_000129.3:p.Arg2576= |
| ENST00000316623.9:c.7726C= | ENSP00000325527.5:p.Arg2576= |
| ENST00000559133.5:c.3095C= | |
| ENST00000559133.6:c.*534C= | ENSP00000453958.2:n.*534C= |
| ENST00000674301.1:c.2892C= | ENSP00000501333.1:n.2892C= |
| ENST00000674301.2:c.*1239C= | ENSP00000501333.2:n.*1239C= |
| ENST00000682170.1:n.1907C= | |
| ENST00000682767.1:n.1023C= |