Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169513023C>T , CM000663.2:g.169513023C>T | GRCh38 |
| NC_000001.10:g.169482261C>T , CM000663.1:g.169482261C>T | GRCh37 |
| NC_000001.9:g.167748885C>T | NCBI36 |
| NG_011806.1:g.78509G>A , LRG_553:g.78509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.*1290G>A MANE Select | ENSP00000356771.3:n.*1290G>A | |
| NM_000130.4:c.*1290G>A , LRG_553t1:c.*1290G>A | NP_000121.2:n.*1290G>A | |
| XM_017000660.2:c.*1290G>A | XP_016856149.1:n.*1290G>A | |
| NM_000130.5:c.*1290G>A MANE Select | NP_000121.2:n.*1290G>A |