Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425538G>A , CM000684.2:g.20425538G>A | GRCh38 |
| NC_000022.10:g.20779828G>A , CM000684.1:g.20779828G>A | GRCh37 |
| NC_000022.9:g.19109828G>A | NCBI36 |
| NG_031868.2:g.17322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2438C>T MANE Select | ENSP00000477564.2:p.Ala813Val | |
| ENST00000615031.4:c.2450C>T | ENSP00000479389.1:p.Ala817Val | |
| ENST00000622235.4:c.2438C>T | ENSP00000477564.1:p.Ala813Val | |
| ENST00000623402.1:c.2453C>T | ENSP00000485276.1:p.Ala818Val | |
| NM_153334.6:c.2453C>T | NP_699165.3:p.Ala818Val | |
| NM_182895.4:c.2438C>T | NP_878315.2:p.Ala813Val | |
| NM_153334.7:c.2453C>T | NP_699165.3:p.Ala818Val | |
| NM_182895.5:c.2438C>T MANE Select | NP_878315.2:p.Ala813Val |