Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945761G= , CM000671.2:g.128945761G= | GRCh38 |
| NC_000009.11:g.131708040G= , CM000671.1:g.131708040G= | GRCh37 |
| NC_000009.10:g.130747861G= | NCBI36 |
| NG_017009.1:g.6973C= , LRG_744:g.6973C= | |
| NG_033111.1:g.3069G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1543C= MANE Select | ENSP00000361667.3:p.Leu515= | |
| ENST00000372586.3:c.1543C= | ENSP00000361667.3:p.Leu515= | |
| ENST00000482796.1:c.39-3428G= | ENSP00000417556.2:n.39-3428G= | |
| NM_014908.3:c.1543C= , LRG_744t1:c.1543C= | NP_055723.1:p.Leu515= | |
| NM_014908.4:c.1543C= MANE Select | NP_055723.1:p.Leu515= |