Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474566C= , CM000677.2:g.48474566C= | GRCh38 |
| NC_000015.9:g.48766763C= , CM000677.1:g.48766763C= | GRCh37 |
| NC_000015.8:g.46554055C= | NCBI36 |
| NG_008805.2:g.176223G= , LRG_778:g.176223G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4049G= | ENSP00000453958.2:p.Cys1350= | |
| ENST00000674301.2:c.4049G= | ENSP00000501333.2:p.Cys1350= | |
| ENST00000684448.1:n.2723G= | ||
| ENST00000316623.10:c.4049G= MANE Select | ENSP00000325527.5:p.Cys1350= | |
| ENST00000316623.9:c.4049G= | ENSP00000325527.5:p.Cys1350= | |
| ENST00000537463.6:c.721G= | ENSP00000440294.2:p.Ala241= | |
| NM_000138.4:c.4049G= , LRG_778t1:c.4049G= | NP_000129.3:p.Cys1350= | |
| NM_000138.5:c.4049G= MANE Select | NP_000129.3:p.Cys1350= |