Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169530730G= , CM000663.2:g.169530730G= | GRCh38 |
| NC_000001.10:g.169499968G= , CM000663.1:g.169499968G= | GRCh37 |
| NC_000001.9:g.167766592G= | NCBI36 |
| NG_011806.1:g.60802C= , LRG_553:g.60802C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.5208+56C= MANE Select | ENSP00000356771.3:n.5208+56C= | |
| ENST00000367796.3:c.5223+56C= | ENSP00000356770.3:n.5223+56C= | |
| ENST00000367797.7:c.5208+56C= | ENSP00000356771.3:n.5208+56C= | |
| NM_000130.4:c.5208+56C= , LRG_553t1:c.5208+56C= | NP_000121.2:n.5208+56C= | |
| XM_017000660.2:c.4797+56C= | XP_016856149.1:n.4797+56C= | |
| NM_000130.5:c.5208+56C= MANE Select | NP_000121.2:n.5208+56C= |