Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826458G= , CM000681.2:g.35826458G= | GRCh38 |
| NC_000019.9:g.36317360G= , CM000681.1:g.36317360G= | GRCh37 |
| NC_000019.8:g.41009200G= | NCBI36 |
| NG_013356.2:g.47830C= , LRG_693:g.47830C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.*56C= MANE Select | ENSP00000368190.4:n.*56C= | |
| ENST00000353632.6:c.*56C= | ENSP00000343634.5:n.*56C= | |
| ENST00000378910.9:c.3782C= | ENSP00000368190.4:n.3782C= | |
| NM_004646.3:c.*56C= , LRG_693t1:c.*56C= | NP_004637.1:n.*56C= | |
| NM_004646.4:c.*56C= MANE Select | NP_004637.1:n.*56C= |