Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51995107A= , CM000674.2:g.51995107A= | GRCh38 |
| NC_000012.11:g.52388891A= , CM000674.1:g.52388891A= | GRCh37 |
| NC_000012.10:g.50675158A= | NCBI36 |
| NG_022926.1:g.48441A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004302.5:c.*997A= MANE Select | NP_004293.1:n.*997A= |
| ENST00000257963.9:c.*997A= MANE Select | ENSP00000257963.4:n.*997A= |
| NM_004302.4:c.*997A= | NP_004293.1:n.*997A= |
| NM_020327.3:c.*997A= | NP_064732.3:n.*997A= |
| NM_020327.4:c.*997A= | NP_064732.3:n.*997A= |
| NM_020328.3:c.*997A= | NP_064733.3:n.*997A= |
| NM_020328.4:c.*997A= | NP_064733.3:n.*997A= |
| ENST00000257963.8:c.*997A= | ENSP00000257963.4:n.*997A= |