Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169567201C= , CM000663.2:g.169567201C= | GRCh38 |
| NC_000001.10:g.169536439C= , CM000663.1:g.169536439C= | GRCh37 |
| NC_000001.9:g.167803063C= | NCBI36 |
| NG_011806.1:g.24331G= , LRG_553:g.24331G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.373+5020G= MANE Select | NP_000121.2:n.373+5020G= |
| ENST00000367797.9:c.373+5020G= MANE Select | ENSP00000356771.3:n.373+5020G= |
| NM_000130.4:c.373+5020G= , LRG_553t1:c.373+5020G= | NP_000121.2:n.373+5020G= |
| ENST00000367796.3:c.373+5020G= | ENSP00000356770.3:n.373+5020G= |
| ENST00000367797.7:c.373+5020G= | ENSP00000356771.3:n.373+5020G= |
| XM_017000660.2:c.-39+5020G= | XP_016856149.1:n.-39+5020G= |