Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169514097A>T , CM000663.2:g.169514097A>T | GRCh38 |
| NC_000001.10:g.169483335A>T , CM000663.1:g.169483335A>T | GRCh37 |
| NC_000001.9:g.167749959A>T | NCBI36 |
| NG_011806.1:g.77435T>A , LRG_553:g.77435T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*216T>A MANE Select | ENSP00000356771.3:n.*216T>A | |
| NM_000130.4:c.*216T>A , LRG_553t1:c.*216T>A | NP_000121.2:n.*216T>A | |
| XM_017000660.2:c.*216T>A | XP_016856149.1:n.*216T>A | |
| NM_000130.5:c.*216T>A MANE Select | NP_000121.2:n.*216T>A |