Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542517T>A , CM000663.2:g.169542517T>A | GRCh38 |
| NC_000001.10:g.169511755T>A , CM000663.1:g.169511755T>A | GRCh37 |
| NC_000001.9:g.167778379T>A | NCBI36 |
| NG_011806.1:g.49015A>T , LRG_553:g.49015A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.2573A>T MANE Select | NP_000121.2:p.Lys858Ile |
| ENST00000367797.9:c.2573A>T MANE Select | ENSP00000356771.3:p.Lys858Ile |
| NM_000130.4:c.2573A>T , LRG_553t1:c.2573A>T | NP_000121.2:p.Lys858Ile |
| ENST00000367796.3:c.2588A>T | ENSP00000356770.3:p.Lys863Ile |
| ENST00000367797.7:c.2573A>T | ENSP00000356771.3:p.Lys858Ile |
| XM_017000660.2:c.2162A>T | XP_016856149.1:p.Lys721Ile |