Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169518448C>T , CM000663.2:g.169518448C>T | GRCh38 |
| NC_000001.10:g.169487686C>T , CM000663.1:g.169487686C>T | GRCh37 |
| NC_000001.9:g.167754310C>T | NCBI36 |
| NG_011806.1:g.73084G>A , LRG_553:g.73084G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.6309G>A MANE Select | NP_000121.2:p.Leu2103= |
| ENST00000367797.9:c.6309G>A MANE Select | ENSP00000356771.3:p.Leu2103= |
| NM_000130.4:c.6309G>A , LRG_553t1:c.6309G>A | NP_000121.2:p.Leu2103= |
| ENST00000367796.3:c.6324G>A | ENSP00000356770.3:p.Leu2108= |
| ENST00000367797.7:c.6309G>A | ENSP00000356771.3:p.Leu2103= |
| XM_017000660.2:c.5898G>A | XP_016856149.1:p.Leu1966= |