Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891478T>G , CM000673.2:g.128891478T>G | GRCh38 |
| NC_000011.9:g.128761373T>G , CM000673.1:g.128761373T>G | GRCh37 |
| NC_000011.8:g.128266583T>G | NCBI36 |
| NG_023406.2:g.5061T>G , LRG_333:g.5061T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-254T>G MANE Select | ENSP00000433295.1:n.-254T>G | |
| ENST00000338350.4:c.-343T>G | ENSP00000339960.4:n.-343T>G | |
| ENST00000529694.5:c.-254T>G | ENSP00000433295.1:n.-254T>G | |
| NM_000890.3:c.-254T>G , LRG_333t1:c.-254T>G | NP_000881.3:n.-254T>G | |
| NM_000890.4:c.-254T>G | NP_000881.3:n.-254T>G | |
| NM_001354169.1:c.-343T>G | NP_001341098.1:n.-343T>G | |
| NM_000890.5:c.-254T>G MANE Select | NP_000881.3:n.-254T>G | |
| NM_001354169.2:c.-343T>G | NP_001341098.1:n.-343T>G |