Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115694340T>G , CM000663.2:g.115694340T>G | GRCh38 |
| NC_000001.10:g.116236961T>G , CM000663.1:g.116236961T>G | GRCh37 |
| NC_000001.9:g.116038484T>G | NCBI36 |
| NG_016548.1:g.57388T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138959.3:c.*2961T>G MANE Select | NP_620409.1:n.*2961T>G |
| ENST00000355485.7:c.*2961T>G MANE Select | ENSP00000347672.2:n.*2961T>G |
| NM_001172411.1:c.*2961T>G | NP_001165882.1:n.*2961T>G |
| NM_001172411.2:c.*2961T>G | NP_001165882.1:n.*2961T>G |
| NM_001172412.1:c.*2961T>G | NP_001165883.1:n.*2961T>G |
| NM_001172412.2:c.*2961T>G | NP_001165883.1:n.*2961T>G |
| NM_138959.2:c.*2961T>G | NP_620409.1:n.*2961T>G |
| ENST00000355485.6:c.*2961T>G | ENSP00000347672.2:n.*2961T>G |
| ENST00000369510.8:c.*2961T>G | ENSP00000358523.3:n.*2961T>G |