Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92014426T>C , CM000676.2:g.92014426T>C | GRCh38 |
| NC_000014.8:g.92480770T>C , CM000676.1:g.92480770T>C | GRCh37 |
| NC_000014.7:g.91550523T>C | NCBI36 |
| NG_016970.1:g.30634A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004239.4:c.975A>G MANE Select | NP_004230.2:p.Ala325= |
| ENST00000267622.8:c.975A>G MANE Select | ENSP00000267622.4:p.Ala325= |
| NM_001321851.1:c.972A>G | NP_001308780.1:p.Ala324= |
| NM_004239.3:c.975A>G | NP_004230.2:p.Ala325= |
| ENST00000554357.5:c.208A>G | |
| XM_005268215.2:c.975A>G | XP_005268272.1:p.Ala325= |
| XM_006720321.2:c.972A>G | XP_006720384.1:p.Ala324= |
| XM_011537361.1:c.975A>G | XP_011535663.1:p.Ala325= |
| XM_017021787.2:c.270A>G | XP_016877276.1:p.Ala90= |
| XM_017021788.2:c.-224A>G | XP_016877277.1:n.-224A>G |
| XR_001750598.2:n.1424A>G | |
| XR_943560.1:n.1430A>G | |
| XR_943560.2:n.1424A>G |