Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763849T>G , CM000673.2:g.763849T>G | GRCh38 |
| NC_000011.9:g.763849T>G , CM000673.1:g.763849T>G | GRCh37 |
| NC_000011.8:g.753849T>G | NCBI36 |
| NG_008160.1:g.21418T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.740T>G MANE Select | ENSP00000321259.3:p.Leu247Arg | |
| ENST00000319006.7:c.740T>G | ENSP00000321259.3:p.Leu247Arg | |
| ENST00000528097.5:c.740T>G | ENSP00000437098.1:p.Leu247Arg | |
| ENST00000530440.1:c.*399T>G | ENSP00000433501.1:n.*399T>G | |
| NM_006755.1:c.740T>G | NP_006746.1:p.Leu247Arg | |
| NM_006755.2:c.740T>G MANE Select | NP_006746.1:p.Leu247Arg |