Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78360015T= , CM000679.2:g.78360015T= | GRCh38 |
| NC_000017.10:g.76356096T= , CM000679.1:g.76356096T= | GRCh37 |
| NC_000017.9:g.73867691T= | NCBI36 |
| NG_016851.1:g.5063A= , LRG_619:g.5063A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003955.5:c.-354A= MANE Select | NP_003946.3:n.-354A= |
| ENST00000330871.3:c.-354A= MANE Select | ENSP00000330341.2:n.-354A= |
| NM_001378933.1:c.-88-832A= | NP_001365862.1:n.-88-832A= |
| NM_003955.4:c.-354A= , LRG_619t1:c.-354A= | NP_003946.3:n.-354A= |
| ENST00000587578.1:c.-255A= | ENSP00000464727.1:n.-255A= |