Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45997750G>A , CM000683.2:g.45997750G>A | GRCh38 |
| NC_000021.8:g.47417664G>A , CM000683.1:g.47417664G>A | GRCh37 |
| NC_000021.7:g.46242092G>A | NCBI36 |
| NG_008674.1:g.21002G>A , LRG_475:g.21002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.287G>A | ||
| ENST00000361866.8:c.1512G>A MANE Select | ENSP00000355180.3:p.Leu504= | |
| ENST00000361866.7:c.1512G>A | ENSP00000355180.3:p.Leu504= | |
| ENST00000612273.1:c.1512G>A | ENSP00000483630.1:p.Leu504= | |
| NM_001848.2:c.1512G>A , LRG_475t1:c.1512G>A | NP_001839.2:p.Leu504= | |
| NM_001848.3:c.1512G>A MANE Select | NP_001839.2:p.Leu504= |