Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451229T= , CM000665.2:g.52451229T= | GRCh38 |
| NC_000003.11:g.52485245T= , CM000665.1:g.52485245T= | GRCh37 |
| NC_000003.10:g.52460285T= | NCBI36 |
| NG_008963.1:g.7813A= , LRG_378:g.7813A= | |
| NG_033112.1:g.722T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*46A= MANE Select | ENSP00000232975.3:n.*46A= | |
| ENST00000232975.7:c.*46A= | ENSP00000232975.3:n.*46A= | |
| NM_003280.2:c.*46A= , LRG_378t1:c.*46A= | NP_003271.1:n.*46A= | |
| NM_003280.3:c.*46A= MANE Select | NP_003271.1:n.*46A= |