Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077595C>A , CM000677.2:g.65077595C>A | GRCh38 |
| NC_000015.9:g.65369933C>A , CM000677.1:g.65369933C>A | GRCh37 |
| NC_000015.8:g.63156986C>A | NCBI36 |
| NG_021411.1:g.5780C>A , LRG_682:g.5780C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.780C>A MANE Select | ENSP00000388723.2:p.Leu260= | |
| ENST00000432196.3:c.780C>A | ENSP00000388723.2:p.Leu260= | |
| NM_001101362.2:c.780C>A , LRG_682t1:c.780C>A | NP_001094832.1:p.Leu260= | |
| NM_001101362.3:c.780C>A MANE Select | NP_001094832.1:p.Leu260= |