Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679808T= , CM000679.2:g.61679808T= | GRCh38 |
| NC_000017.10:g.59757169T= , CM000679.1:g.59757169T= | GRCh37 |
| NC_000017.9:g.57111951T= | NCBI36 |
| NG_007409.2:g.188752A= , LRG_300:g.188752A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032043.3:c.*3488A= MANE Select | NP_114432.2:n.*3488A= |
| ENST00000259008.7:c.*3488A= MANE Select | ENSP00000259008.2:n.*3488A= |
| NM_032043.2:c.*3488A= , LRG_300t1:c.*3488A= | NP_114432.2:n.*3488A= |
| ENST00000682755.1:c.*3488A= | ENSP00000507660.1:n.*3488A= |