Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74531414T>G , CM000685.2:g.74531414T>G | GRCh38 |
| NC_000023.10:g.73751249T>G , CM000685.1:g.73751249T>G | GRCh37 |
| NC_000023.9:g.73667974T>G | NCBI36 |
| NG_011641.1:g.115165T>G | |
| NG_011641.2:g.115165T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.1481T>G MANE Select | NP_006508.2:p.Leu494Arg |
| ENST00000587091.6:c.1481T>G MANE Select | ENSP00000465734.1:p.Leu494Arg |
| NM_006517.4:c.1481T>G | NP_006508.2:p.Leu494Arg |
| ENST00000587091.5:c.1481T>G | ENSP00000465734.1:p.Leu494Arg |
| ENST00000590447.1:c.692T>G | |
| ENST00000636771.1:c.1390T>G | |
| XM_005262294.1:c.*4T>G | XP_005262351.1:n.*4T>G |