Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518046G= , CM000676.2:g.77518046G= | GRCh38 |
| NC_000014.8:g.77984389G= , CM000676.1:g.77984389G= | GRCh37 |
| NC_000014.7:g.77054142G= | NCBI36 |
| NG_028282.1:g.103722C= , LRG_371:g.103722C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.593C= | ||
| ENST00000687688.1:n.1324C= | ||
| ENST00000692906.1:n.1293C= | ||
| ENST00000216484.7:c.1561C= MANE Select | ENSP00000216484.2:p.Leu521= | |
| ENST00000216484.6:c.1561C= | ENSP00000216484.2:p.Leu521= | |
| ENST00000556607.1:c.389C= | ENSP00000451029.1:n.389C= | |
| NM_004863.3:c.1561C= , LRG_371t1:c.1561C= | NP_004854.1:p.Leu521= | |
| NM_004863.4:c.1561C= MANE Select | NP_004854.1:p.Leu521= |