Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74531414T= , CM000685.2:g.74531414T= | GRCh38 |
| NC_000023.10:g.73751249T= , CM000685.1:g.73751249T= | GRCh37 |
| NC_000023.9:g.73667974T= | NCBI36 |
| NG_011641.1:g.115165T= | |
| NG_011641.2:g.115165T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1481T= MANE Select | ENSP00000465734.1:p.Leu494= | |
| ENST00000636771.1:c.1390T= | ||
| ENST00000587091.5:c.1481T= | ENSP00000465734.1:p.Leu494= | |
| ENST00000590447.1:c.692T= | ||
| NM_006517.4:c.1481T= | NP_006508.2:p.Leu494= | |
| XM_005262294.1:c.*4T= | XP_005262351.1:n.*4T= | |
| NM_006517.5:c.1481T= MANE Select | NP_006508.2:p.Leu494= |