Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751851C>G , CM000677.2:g.74751851C>G | GRCh38 |
| NC_000015.9:g.75044192C>G , CM000677.1:g.75044192C>G | GRCh37 |
| NC_000015.8:g.72831245C>G | NCBI36 |
| NG_008431.1:g.34310C>G | |
| NG_008431.2:g.34310C>G | |
| NG_061543.1:g.8007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1039C>G MANE Select | ENSP00000342007.4:p.Leu347Val | |
| ENST00000343932.4:c.1039C>G | ENSP00000342007.4:p.Leu347Val | |
| NM_000761.4:c.1039C>G | NP_000752.2:p.Leu347Val | |
| NM_000761.5:c.1039C>G MANE Select | NP_000752.2:p.Leu347Val |