Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74525802T>G , CM000685.2:g.74525802T>G | GRCh38 |
| NC_000023.10:g.73745637T>G , CM000685.1:g.73745637T>G | GRCh37 |
| NC_000023.9:g.73662362T>G | NCBI36 |
| NG_011641.1:g.109553T>G | |
| NG_011641.2:g.109553T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587091.6:c.1079T>G MANE Select | ENSP00000465734.1:p.Leu360Trp | |
| ENST00000636771.1:c.988T>G | ||
| ENST00000587091.5:c.1079T>G | ENSP00000465734.1:p.Leu360Trp | |
| ENST00000590447.1:c.519T>G | ||
| NM_006517.4:c.1079T>G | NP_006508.2:p.Leu360Trp | |
| XM_005262294.1:c.1079T>G | XP_005262351.1:p.Leu360Trp | |
| XM_011531015.1:c.*83T>G | XP_011529317.1:n.*83T>G | |
| NM_006517.5:c.1079T>G MANE Select | NP_006508.2:p.Leu360Trp |