Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474572C= , CM000677.2:g.48474572C= | GRCh38 |
| NC_000015.9:g.48766769C= , CM000677.1:g.48766769C= | GRCh37 |
| NC_000015.8:g.46554061C= | NCBI36 |
| NG_008805.2:g.176217G= , LRG_778:g.176217G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4043G= | ENSP00000453958.2:p.Cys1348= | |
| ENST00000674301.2:c.4043G= | ENSP00000501333.2:p.Cys1348= | |
| ENST00000684448.1:n.2717G= | ||
| ENST00000316623.10:c.4043G= MANE Select | ENSP00000325527.5:p.Cys1348= | |
| ENST00000316623.9:c.4043G= | ENSP00000325527.5:p.Cys1348= | |
| ENST00000537463.6:c.715G= | ENSP00000440294.2:p.Val239= | |
| NM_000138.4:c.4043G= , LRG_778t1:c.4043G= | NP_000129.3:p.Cys1348= | |
| NM_000138.5:c.4043G= MANE Select | NP_000129.3:p.Cys1348= |