Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679256A>T , CM000679.2:g.61679256A>T | GRCh38 |
| NC_000017.10:g.59756617A>T , CM000679.1:g.59756617A>T | GRCh37 |
| NC_000017.9:g.57111399A>T | NCBI36 |
| NG_007409.2:g.189304T>A , LRG_300:g.189304T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032043.3:c.*4040T>A MANE Select | NP_114432.2:n.*4040T>A |
| ENST00000259008.7:c.*4040T>A MANE Select | ENSP00000259008.2:n.*4040T>A |
| NM_032043.2:c.*4040T>A , LRG_300t1:c.*4040T>A | NP_114432.2:n.*4040T>A |
| ENST00000682755.1:c.*4040T>A | ENSP00000507660.1:n.*4040T>A |