Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139563228A>G , CM000685.2:g.139563228A>G | GRCh38 |
| NC_000023.10:g.138645387A>G , CM000685.1:g.138645387A>G | GRCh37 |
| NC_000023.9:g.138473053A>G | NCBI36 |
| NG_007994.1:g.37493A>G , LRG_556:g.37493A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000133.4:c.*1157A>G MANE Select | NP_000124.1:n.*1157A>G |
| ENST00000218099.7:c.*1157A>G MANE Select | ENSP00000218099.2:n.*1157A>G |
| NM_000133.3:c.*1157A>G , LRG_556t1:c.*1157A>G | NP_000124.1:n.*1157A>G |
| NM_001313913.1:c.*1157A>G | NP_001300842.1:n.*1157A>G |
| NM_001313913.2:c.*1157A>G | NP_001300842.1:n.*1157A>G |
| ENST00000218099.6:c.*1157A>G | ENSP00000218099.2:n.*1157A>G |
| ENST00000643157.1:n.1846A>G | |
| XM_005262397.3:c.*1157A>G | XP_005262454.1:n.*1157A>G |
| XM_005262397.4:c.*1157A>G | XP_005262454.1:n.*1157A>G |