Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78357829T= , CM000679.2:g.78357829T= | GRCh38 |
| NC_000017.10:g.76353910T= , CM000679.1:g.76353910T= | GRCh37 |
| NC_000017.9:g.73865505T= | NCBI36 |
| NG_016851.1:g.7249A= , LRG_619:g.7249A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003955.5:c.*589A= MANE Select | NP_003946.3:n.*589A= |
| ENST00000330871.3:c.*589A= MANE Select | ENSP00000330341.2:n.*589A= |
| NM_001378932.1:c.*589A= | NP_001365861.1:n.*589A= |
| NM_001378933.1:c.*589A= | NP_001365862.1:n.*589A= |
| NM_003955.4:c.*589A= , LRG_619t1:c.*589A= | NP_003946.3:n.*589A= |