Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115695726C>T , CM000663.2:g.115695726C>T | GRCh38 |
| NC_000001.10:g.116238347C>T , CM000663.1:g.116238347C>T | GRCh37 |
| NC_000001.9:g.116039870C>T | NCBI36 |
| NG_016548.1:g.58774C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138959.3:c.*4347C>T MANE Select | NP_620409.1:n.*4347C>T |
| ENST00000355485.7:c.*4347C>T MANE Select | ENSP00000347672.2:n.*4347C>T |
| NM_001172411.1:c.*4347C>T | NP_001165882.1:n.*4347C>T |
| NM_001172411.2:c.*4347C>T | NP_001165882.1:n.*4347C>T |
| NM_001172412.1:c.*4347C>T | NP_001165883.1:n.*4347C>T |
| NM_001172412.2:c.*4347C>T | NP_001165883.1:n.*4347C>T |
| NM_138959.2:c.*4347C>T | NP_620409.1:n.*4347C>T |
| ENST00000355485.6:c.*4347C>T | ENSP00000347672.2:n.*4347C>T |
| ENST00000369510.8:c.*4347C>T | ENSP00000358523.3:n.*4347C>T |