Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169528083T>A , CM000663.2:g.169528083T>A | GRCh38 |
| NC_000001.10:g.169497321T>A , CM000663.1:g.169497321T>A | GRCh37 |
| NC_000001.9:g.167763945T>A | NCBI36 |
| NG_011806.1:g.63449A>T , LRG_553:g.63449A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.5431A>T MANE Select | NP_000121.2:p.Met1811Leu |
| ENST00000367797.9:c.5431A>T MANE Select | ENSP00000356771.3:p.Met1811Leu |
| NM_000130.4:c.5431A>T , LRG_553t1:c.5431A>T | NP_000121.2:p.Met1811Leu |
| ENST00000367796.3:c.5446A>T | ENSP00000356770.3:p.Met1816Leu |
| ENST00000367797.7:c.5431A>T | ENSP00000356771.3:p.Met1811Leu |
| XM_017000660.2:c.5020A>T | XP_016856149.1:p.Met1674Leu |